MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

doi:10.1093/brain/awz379

. 2020 Jan 1;143(1):55-68.

doi: 10.1093/brain/awz379.

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

Christopher C Y Mak¹, Dan Doherty^{2

3}, Angela E Lin⁴, Nancy Vegas^{5

6}, Megan T Cho⁷, Géraldine Viot⁸, Clémantine Dimartino^{5

6}, James D Weisfeld-Adams⁹, Davor Lessel¹⁰, Shelagh Joss¹¹, Chumei Li¹², Claudia Gonzaga-Jauregui¹³, Yuri A Zarate¹⁴, Nadja Ehmke¹⁵, Denise Horn¹⁵, Caitlin Troyer¹⁶, Sarina G Kant¹⁷, Youngha Lee¹⁸, Gisele E Ishak^{3

19}, Gordon Leung¹, Amanda Barone Pritchard²⁰, Sandra Yang⁷, Eric G Bend^{21

22}, Francesca Filippini^{5

6}, Chelsea Roadhouse¹², Nicolas Lebrun²³, Michele G Mehaffey², Pierre-Marie Martin^{24

25}, Benjamin Apple⁹, Francisca Millan⁷, Oliver Puk²⁶, Mariette J V Hoffer¹⁷, Lindsay B Henderson⁷, Ruth McGowan¹¹, Ingrid M Wentzensen⁷, Steven Pei¹, Farah R Zahir²⁷, Mullin Yu¹, William T Gibson²⁷, Ann Seman²⁸, Marcie Steeves⁴, Jill R Murrell²⁹, Sabine Luettgen¹⁰, Elizabeth Francisco³⁰, Tim M Strom^{31

32}, Louise Amlie-Wolf³³, Angela M Kaindl^{34

35}, William G Wilson¹⁶, Sara Halbach³⁶, Lina Basel-Salmon^{37

38

39

40}, Noa Lev-El³⁷, Jonas Denecke⁴¹, Lisenka E L M Vissers⁴², Kelly Radtke⁴³, Jamel Chelly^{44

45

46}, Elaine Zackai^{20

47}, Jan M Friedman²⁷, Michael J Bamshad^{2

48

49}, Deborah A Nickerson^{48

49}; University of Washington Center for Mendelian Genomics; Russell R Reid⁵⁰, Koenraad Devriendt⁵¹, Jong-Hee Chae⁵², Elliot Stolerman²¹, Carey McDougall²⁰, Zöe Powis⁴³, Thierry Bienvenu^{23

53}, Tiong Y Tan⁵⁴, Naama Orenstein^{38

39}, William B Dobyns^{2

3

55}, Joseph T Shieh^{24

25}, Murim Choi^{18

52}, Darrel Waggoner³⁶, Karen W Gripp³³, Michael J Parker⁵⁶, Joan Stoler²⁸, Stanislas Lyonnet^{5

6

57}, Valérie Cormier-Daire^{6

57

58}, David Viskochil⁵⁹, Trevor L Hoffman⁶⁰, Jeanne Amiel^{5

6

57}, Brian H Y Chung¹, Christopher T Gordon^{5

6}

Affiliations

¹ Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China.
² Department of Pediatrics, University of Washington, Seattle, WA, USA.
³ Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
⁴ Medical Genetics, MassGeneral Hospital for Children, Boston, MA, USA.
⁵ Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.
⁶ Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
⁷ GeneDx, Gaithersburg, MD, USA.
⁸ Gynécologie Obstétrique, Hôpital Cochin, Hôpitaux Universitaires Paris Centre (HUPC), Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France.
⁹ Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado-Denver School of Medicine, Aurora, CO, USA.
¹⁰ Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
¹¹ West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.
¹² McMaster University Medical Center, Hamilton, Ontario, Canada.
¹³ Regeneron Genetics Center, Regeneron Pharmaceuticals Inc, Tarrytown, NY, USA.
¹⁴ Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA.
¹⁵ Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
¹⁶ Pediatrics and Medical Genetics, University of Virginia Health System, Charlottesville, VA, USA.
¹⁷ Department of Clinical Genetics, Leiden University Medical Center, RC Leiden, The Netherlands.
¹⁸ Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.
¹⁹ Department of Radiology, University of Washington, Seattle, WA, USA.
²⁰ Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
²¹ Greenwood Genetic Center, Greenwood, SC, USA.
²² PreventionGenetics, Marshfield, WI, USA.
²³ Institut Cochin, INSERM U1016, CNRS UMR, Paris Descartes University, Paris, France.
²⁴ Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
²⁵ Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA.
²⁶ Praxis für Humangenetik Tübingen, Tübingen, Germany.
²⁷ Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
²⁸ Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
²⁹ Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
³⁰ eviCore healthcare, Bluffton, SC, USA.
³¹ Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
³² Institute of Human Genetics, Technische Universität München, Munich, Germany.
³³ Division of Medical Genetics, A I duPont Hospital for Children/Nemours, Wilmington, DE, USA.
³⁴ Charité - Universitätsmedizin Berlin, Institute of Neuroanatomy and Cell Biology, Department of Pediatric Neurology and Center for Chronically Sick Children, Berlin, Germany.
³⁵ Berlin Institute of Health (BIH), Berlin, Germany.
³⁶ Department of Human Genetics, University of Chicago, Chicago, IL, USA.
³⁷ Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.
³⁸ Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
³⁹ Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
⁴⁰ Felsenstein Medical Research Center, Petach Tikva, Israel.
⁴¹ Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
⁴² Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, HB Nijmegen, The Netherlands.
⁴³ Clinical Genomics Department, Ambry Genetics, Aliso Viejo, CA, USA.
⁴⁴ Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Nouvel Hôpital Civil, Strasbourg, France.
⁴⁵ Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, 67000 Strasbourg, France.
⁴⁶ Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964, CNRS UMR7104, Université de Strasbourg, 67404 Illkirch, France.
⁴⁷ Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
⁴⁸ Department of Genome Sciences, University of Washington, Seattle, WA, USA.
⁴⁹ University of Washington Center for Mendelian Genomics, Seattle, WA, USA.
⁵⁰ Department of Surgery, Section of Plastic Surgery, University of Chicago, Chicago, IL, USA.
⁵¹ Department of Human Genetics, Katholieke Universiteit Leuven, 3000 Leuven, Belgium.
⁵² Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.
⁵³ Laboratoire de Génétique et Biologie Moléculaires, Hôpital Cochin, HUPC, AP-HP, 75014 Paris, France.
⁵⁴ Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Department of Paediatrics, University of Melbourne, Melbourne, 3052, Australia.
⁵⁵ Department of Neurology, University of Washington, Seattle, WA, USA.
⁵⁶ Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield S10 2TH, UK.
⁵⁷ Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.
⁵⁸ Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR 1163, Institut Imagine, 75015 Paris, France.
⁵⁹ Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA.
⁶⁰ Southern California Kaiser Permanente Medical Group, Anaheim, CA, USA.

PMID: 31834374
PMCID: PMC7962909
DOI: 10.1093/brain/awz379

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

Christopher C Y Mak et al. Brain. 2020.

. 2020 Jan 1;143(1):55-68.

doi: 10.1093/brain/awz379.

Authors

Affiliations

¹ Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China.
² Department of Pediatrics, University of Washington, Seattle, WA, USA.
³ Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
⁴ Medical Genetics, MassGeneral Hospital for Children, Boston, MA, USA.
⁵ Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.
⁶ Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
⁷ GeneDx, Gaithersburg, MD, USA.
⁸ Gynécologie Obstétrique, Hôpital Cochin, Hôpitaux Universitaires Paris Centre (HUPC), Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France.
⁹ Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado-Denver School of Medicine, Aurora, CO, USA.
¹⁰ Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
¹¹ West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.
¹² McMaster University Medical Center, Hamilton, Ontario, Canada.
¹³ Regeneron Genetics Center, Regeneron Pharmaceuticals Inc, Tarrytown, NY, USA.
¹⁴ Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA.
¹⁵ Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
¹⁶ Pediatrics and Medical Genetics, University of Virginia Health System, Charlottesville, VA, USA.
¹⁷ Department of Clinical Genetics, Leiden University Medical Center, RC Leiden, The Netherlands.
¹⁸ Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.
¹⁹ Department of Radiology, University of Washington, Seattle, WA, USA.
²⁰ Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
²¹ Greenwood Genetic Center, Greenwood, SC, USA.
²² PreventionGenetics, Marshfield, WI, USA.
²³ Institut Cochin, INSERM U1016, CNRS UMR, Paris Descartes University, Paris, France.
²⁴ Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
²⁵ Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA.
²⁶ Praxis für Humangenetik Tübingen, Tübingen, Germany.
²⁷ Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
²⁸ Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
²⁹ Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
³⁰ eviCore healthcare, Bluffton, SC, USA.
³¹ Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
³² Institute of Human Genetics, Technische Universität München, Munich, Germany.
³³ Division of Medical Genetics, A I duPont Hospital for Children/Nemours, Wilmington, DE, USA.
³⁴ Charité - Universitätsmedizin Berlin, Institute of Neuroanatomy and Cell Biology, Department of Pediatric Neurology and Center for Chronically Sick Children, Berlin, Germany.
³⁵ Berlin Institute of Health (BIH), Berlin, Germany.
³⁶ Department of Human Genetics, University of Chicago, Chicago, IL, USA.
³⁷ Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.
³⁸ Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
³⁹ Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
⁴⁰ Felsenstein Medical Research Center, Petach Tikva, Israel.
⁴¹ Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
⁴² Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, HB Nijmegen, The Netherlands.
⁴³ Clinical Genomics Department, Ambry Genetics, Aliso Viejo, CA, USA.
⁴⁴ Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Nouvel Hôpital Civil, Strasbourg, France.
⁴⁵ Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, 67000 Strasbourg, France.
⁴⁶ Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964, CNRS UMR7104, Université de Strasbourg, 67404 Illkirch, France.
⁴⁷ Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
⁴⁸ Department of Genome Sciences, University of Washington, Seattle, WA, USA.
⁴⁹ University of Washington Center for Mendelian Genomics, Seattle, WA, USA.
⁵⁰ Department of Surgery, Section of Plastic Surgery, University of Chicago, Chicago, IL, USA.
⁵¹ Department of Human Genetics, Katholieke Universiteit Leuven, 3000 Leuven, Belgium.
⁵² Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.
⁵³ Laboratoire de Génétique et Biologie Moléculaires, Hôpital Cochin, HUPC, AP-HP, 75014 Paris, France.
⁵⁴ Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Department of Paediatrics, University of Melbourne, Melbourne, 3052, Australia.
⁵⁵ Department of Neurology, University of Washington, Seattle, WA, USA.
⁵⁶ Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield S10 2TH, UK.
⁵⁷ Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.
⁵⁸ Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR 1163, Institut Imagine, 75015 Paris, France.
⁵⁹ Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA.
⁶⁰ Southern California Kaiser Permanente Medical Group, Anaheim, CA, USA.

PMID: 31834374
PMCID: PMC7962909
DOI: 10.1093/brain/awz379

Erratum in

Erratum.
[No authors listed] [No authors listed] Brain. 2020 Mar 1;143(3):e24. doi: 10.1093/brain/awaa007. Brain. 2020. PMID: 32333675 Free PMC article. No abstract available.

Abstract

MN1 encodes a transcriptional co-regulator without homology to other proteins, previously implicated in acute myeloid leukaemia and development of the palate. Large deletions encompassing MN1 have been reported in individuals with variable neurodevelopmental anomalies and non-specific facial features. We identified a cluster of de novo truncating mutations in MN1 in a cohort of 23 individuals with strikingly similar dysmorphic facial features, especially midface hypoplasia, and intellectual disability with severe expressive language delay. Imaging revealed an atypical form of rhombencephalosynapsis, a distinctive brain malformation characterized by partial or complete loss of the cerebellar vermis with fusion of the cerebellar hemispheres, in 8/10 individuals. Rhombencephalosynapsis has no previously known definitive genetic or environmental causes. Other frequent features included perisylvian polymicrogyria, abnormal posterior clinoid processes and persistent trigeminal artery. MN1 is encoded by only two exons. All mutations, including the recurrent variant p.Arg1295* observed in 8/21 probands, fall in the terminal exon or the extreme 3' region of exon 1, and are therefore predicted to result in escape from nonsense-mediated mRNA decay. This was confirmed in fibroblasts from three individuals. We propose that the condition described here, MN1 C-terminal truncation (MCTT) syndrome, is not due to MN1 haploinsufficiency but rather is the result of dominantly acting C-terminally truncated MN1 protein. Our data show that MN1 plays a critical role in human craniofacial and brain development, and opens the door to understanding the biological mechanisms underlying rhombencephalosynapsis.

Keywords: MCTT syndrome; MN1; craniofacial development; intellectual disability; rhombencephalosynapsis.

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Figures

**Figure 1**
**MN1 mutations and sequence conservation.** (A) Distribution of C-terminal truncating mutations identified in *MN1* in 21 probands (red arrows). Beneath the schema of the gene, black arrows indicate the positions of loss-of-function variants in the gnomAD database and p.(Ser179*), p.(Pro365Thrfs*120) and p.(Ser472*) identified in Individuals 24, 25 and 26, respectively. (B) MN1 C-terminal sequence conservation. Multi-species sequence alignment of the entire exon 2 coding region of *MN1*. Sequences were obtained from the following RefSeq or Ensembl transcripts: human, NM_002430.2; mouse, NM_001081235.1; *Xenopus*, NM_001100202.1; zebrafish, ENSDART00000129197. Red arrows indicate the positions of the mutations identified in exon 2.

**Figure 2**
**Facial features of individuals with C-terminal truncating mutations in *MN1*.** Oral view for Individuals 18 and 22 indicates high and narrow palate. Individual identification numbers are indicated at the *top left* of each panel.

**Figure 3**
**3D CT scans indicating craniosynostosis in individuals with C-terminal truncating mutations in *MN1*.** For Individual 5, images show bilateral partial craniosynostosis of squamosal, frontosphenoid and coronal sutures. For Individuals 12 and 18, images show closure of the metopic, coronal and sagittal sutures and partial closure of lambdoid sutures. The images of Individual 18 are subsequent to fronto-orbital advancement surgery and placement of a ventriculoperitoneal shunt.

**Figure 4**
**Brain findings in patients with C-terminal truncating *MN1* variants.** (A) Inferior cerebellum (axial view): foliar dysplasia with indistinct vermis and abnormal folia crossing the midline (Individuals 2, 14, 17, 20, 21); normal inferior cerebellar anatomy (Individuals 24 and 28). (B) Superior cerebellum (axial view): small (Individuals 17, 20 and 21) or almost absent (Individuals 2 and 14) vermis with abnormal folia crossing the midline especially ventrally; normal superior cerebellar anatomy with intact vermis (Individuals 24 and 28). Arrow in Individual 17 indicates persistent trigeminal artery. (C) Insula (axial view): polymicrogyria interior to yellow bars (Individuals 14, 17, 20 and 21), normal appearance (Individuals 2, 24 and 28). Note that Individual 14 has a cavum velum interpositum (asterisk) and all individuals with C-terminal truncating variants have unusual head shape with bitemporal narrowing. (D) Midline (sagittal view): Tall, flat forehead and thickened rostral corpus callosum (Individuals 2, 14, 17, 20 and 21), abnormal vermis lobulation with indistinct primary and horizontal fissures (Individuals 2, 14, 17, 20 and 21), persistent trigeminal artery (arrow in Individual 14) and prominent posterior clinoid process (arrowheads in Individuals 17 and 20).

**Figure 5**
**Persistent trigeminal artery and prominent posterior clinoid process in patients with C-terminal truncating *MN1* variants.** (A) Carotid and basilar arteries (axial view): Persistent trigeminal artery flow-voids (dark signal) connecting the carotid (C) and basilar (B) artery flow-voids (arrows). The persistent trigeminal arteries are unilateral in Individuals 11 and 17, and bilateral in Individual 13. Individual 24 with an early truncating variant does not have persistent trigeminal arteries (shown for comparison). (B) Prominent posterior clinoid process (sagittal view): abnormal tissue just superior to the posterior pituitary bright spot and continuous with the posterior clinoid process (arrowheads). Individual 24 without the abnormal tissue is shown for comparison.

**Figure 6**
**Facial features of individuals with N-terminal truncating mutations in *MN1* or whole deletions of *MN1*.** Individual identification numbers are indicated at the *top left* of each panel.

See this image and copyright information in PMC

Comment in

MN1 gene loss-of-function mutation causes cleft palate in a pedigree.
Shu L, He D, Wu D, Peng Y, Xi H, Mao X, Wang H. Shu L, et al. Brain. 2021 Mar 3;144(2):e18. doi: 10.1093/brain/awaa431. Brain. 2021. PMID: 33351070 Free PMC article. No abstract available.
Reply: MN1 gene loss-of-function mutation causes cleft palate in a pedigree.
Vegas N, Low K, Mak CCY, Fung JLF, Hing AV, Chung BHY, Doherty D, Amiel J, Gordon CT. Vegas N, et al. Brain. 2021 Mar 3;144(2):e19. doi: 10.1093/brain/awaa432. Brain. 2021. PMID: 33351141 No abstract available.

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References

1. Acuna-Hidalgo R, Veltman JA, Hoischen A. New insights into the generation and role of de novo mutations in health and disease. Genome Biol 2016; 17: 241. - PMC - PubMed
1. Aldinger KA, Dempsey JC, Tully HM,, Grout ME, Mehaffey MG, Dobyns WB, et al.Rhombencephalosynapsis: Fused cerebellum, confused geneticists. Am J Med Genet C Semin Med Genet 2018; 178: 432–9. - PMC - PubMed
1. Barbi G, Rossier E, Vossbeck S, Hummler H, Lang D, Flock F, et al.Constitutional de novo interstitial deletion of 8 Mb on chromosome 22q12.1-12.3 encompassing the neurofibromatosis type 2 (NF2) locus in a dysmorphic girl with severe malformations. J Med Genet 2002; 39: E6. - PMC - PubMed
1. Beck M, Peterson JF, McConnell J, McGuire M, Asato M, Losee JE, et al.Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the MN1 gene. Am J Med Genet A 2015; 167A: 1047–53. - PubMed
1. Breckpot J, Anderlid B-M, Alanay Y, Blyth M, Brahimi A, Duban-Bedu B, et al.Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate. Eur J Hum Genet 2016; 24: 51–8. - PMC - PubMed

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[1] Acuna-Hidalgo R, Veltman JA, Hoischen A. New insights into the generation and role of de novo mutations in health and disease. Genome Biol 2016; 17: 241. - PMC - PubMed

[2] Acuna-Hidalgo R, Veltman JA, Hoischen A. New insights into the generation and role of de novo mutations in health and disease. Genome Biol 2016; 17: 241. - PMC - PubMed

[3] Aldinger KA, Dempsey JC, Tully HM,, Grout ME, Mehaffey MG, Dobyns WB, et al.Rhombencephalosynapsis: Fused cerebellum, confused geneticists. Am J Med Genet C Semin Med Genet 2018; 178: 432–9. - PMC - PubMed

[4] Aldinger KA, Dempsey JC, Tully HM,, Grout ME, Mehaffey MG, Dobyns WB, et al.Rhombencephalosynapsis: Fused cerebellum, confused geneticists. Am J Med Genet C Semin Med Genet 2018; 178: 432–9. - PMC - PubMed

[5] Barbi G, Rossier E, Vossbeck S, Hummler H, Lang D, Flock F, et al.Constitutional de novo interstitial deletion of 8 Mb on chromosome 22q12.1-12.3 encompassing the neurofibromatosis type 2 (NF2) locus in a dysmorphic girl with severe malformations. J Med Genet 2002; 39: E6. - PMC - PubMed

[6] Barbi G, Rossier E, Vossbeck S, Hummler H, Lang D, Flock F, et al.Constitutional de novo interstitial deletion of 8 Mb on chromosome 22q12.1-12.3 encompassing the neurofibromatosis type 2 (NF2) locus in a dysmorphic girl with severe malformations. J Med Genet 2002; 39: E6. - PMC - PubMed

[7] Beck M, Peterson JF, McConnell J, McGuire M, Asato M, Losee JE, et al.Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the MN1 gene. Am J Med Genet A 2015; 167A: 1047–53. - PubMed

[8] Beck M, Peterson JF, McConnell J, McGuire M, Asato M, Losee JE, et al.Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the MN1 gene. Am J Med Genet A 2015; 167A: 1047–53. - PubMed

[9] Breckpot J, Anderlid B-M, Alanay Y, Blyth M, Brahimi A, Duban-Bedu B, et al.Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate. Eur J Hum Genet 2016; 24: 51–8. - PMC - PubMed

[10] Breckpot J, Anderlid B-M, Alanay Y, Blyth M, Brahimi A, Duban-Bedu B, et al.Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate. Eur J Hum Genet 2016; 24: 51–8. - PMC - PubMed

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MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

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MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

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