A further family of Stromme syndrome carrying CENPF mutation
- PMID: 28407396
- DOI: 10.1002/ajmg.a.38173
A further family of Stromme syndrome carrying CENPF mutation
Abstract
Stromme syndrome is a rare genetic disorder characterized by microcephaly, anterior ocular chamber anomalies, and "apple peel" type jejunal atresia. Here, we report a Stromme syndrome family with two affected siblings with a homozygous truncating frameshift mutation in CENPF. A 3-month-old girl was hospitalized due to prenatally diagnosed microcephaly, microphthalmia, and dysmorphological features. The history of a previous child with the same findings in addition to "apple peel" intestinal atresia had been noted. Regarding the clinical features of both affected siblings, a diagnosis of Stromme syndrome was established. Exome-sequencing of these two cases showed the homozygous mutation (c.5912_5913insA)/(p.T1974Nfs*9) in CENPF. While confirmation of this gene being responsible for Stromme syndrome was pending our results, Filges et al. reported that CENPF was indeed underlying the reason for Stromme syndrome. This is the second case report identifying CENPF mutation as the cause of Stromme syndrome.
Keywords: Stromme syndrome; centromere protein F; ciliopathy; exome; gene discovery; massively parallel sequencing; microcephaly.
© 2017 Wiley Periodicals, Inc.
Similar articles
-
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome.Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):102-108. doi: 10.1002/ajmg.c.31973. Epub 2022 Apr 30. Am J Med Genet C Semin Med Genet. 2022. PMID: 35488810 Free PMC article.
-
Expanding the phenotype and the genotype of Stromme syndrome: A novel variant of the CENPF gene and literature review.Eur J Med Genet. 2020 May;63(5):103844. doi: 10.1016/j.ejmg.2020.103844. Epub 2020 Jan 14. Eur J Med Genet. 2020. PMID: 31953238 Review.
-
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.Hum Mutat. 2016 Apr;37(4):359-63. doi: 10.1002/humu.22960. Epub 2016 Feb 9. Hum Mutat. 2016. PMID: 26820108
-
CUGC for Stromme syndrome and CENPF-related disorders.Eur J Hum Genet. 2020 Jan;28(1):132-136. doi: 10.1038/s41431-019-0498-y. Epub 2019 Sep 5. Eur J Hum Genet. 2020. PMID: 31488893 Free PMC article.
-
The first case report of Strømme syndrome in a Chinese patient: Expanding the phenotype and literature review.Am J Med Genet A. 2022 May;188(5):1626-1629. doi: 10.1002/ajmg.a.62646. Epub 2022 Jan 9. Am J Med Genet A. 2022. PMID: 35001526 Review.
Cited by
-
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome.Am J Med Genet C Semin Med Genet. 2022 Mar;190(1):102-108. doi: 10.1002/ajmg.c.31973. Epub 2022 Apr 30. Am J Med Genet C Semin Med Genet. 2022. PMID: 35488810 Free PMC article.
-
CENPF promotes papillary thyroid cancer progression by mediating cell proliferation and apoptosis.Exp Ther Med. 2021 Apr;21(4):401. doi: 10.3892/etm.2021.9832. Epub 2021 Feb 24. Exp Ther Med. 2021. PMID: 33680123 Free PMC article.
-
Pathogenic alleles in microtubule, secretory granule and extracellular matrix-related genes in familial keratoconus.Hum Mol Genet. 2021 May 17;30(8):658-671. doi: 10.1093/hmg/ddab075. Hum Mol Genet. 2021. PMID: 33729517 Free PMC article.
-
Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature.Genet Med. 2019 Jan;21(1):3-16. doi: 10.1038/s41436-018-0024-6. Epub 2018 May 14. Genet Med. 2019. PMID: 29760485
-
The Mitotic Apparatus and Kinetochores in Microcephaly and Neurodevelopmental Diseases.Cells. 2019 Dec 24;9(1):49. doi: 10.3390/cells9010049. Cells. 2019. PMID: 31878213 Free PMC article. Review.
Publication types
MeSH terms
Substances
Supplementary concepts
LinkOut - more resources
Full Text Sources
Other Literature Sources
