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Simpson-Golabi-Behmel syndrome

MedGen UID:
1387611
•Concept ID:
C4317043
•
Disease or Syndrome
Synonyms: Bulldog syndrome; DGSX; dysplasia gigantism syndrome, X-linked; Golabi-Rosen syndrome; Sara Angers syndrome; SDYS; SGB syndrome; SGBS; Sgbs; SGBS1; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel Syndrome; Simpson-Golabi-Behmel syndrome type 1; X-linked dysplasia gigantism syndrome
SNOMED CT: Bulldog syndrome (439143004); Simpson-Golabi-Behmel syndrome (439143004)
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
•Concept ID:
C1845977
•
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
See: This record
X-linked recessive inheritance (Orphanet)
 
Related genes: OFD1, GPC3, GPC4
 
Monarch Initiative: MONDO:0010731
Orphanet: ORPHA373

Definition

Simpson-Golabi-Behmel syndrome is an X-linked condition characterized by pre- and postnatal overgrowth, coarse facies, congenital heart defects, and other congenital abnormalities (Xuan et al., 1999). It shows phenotypic similarities to Beckwith-Wiedemann syndrome (BWS; 130650), another overgrowth syndrome. Genetic Heterogeneity of Simpson-Golabi-Behmel Syndrome See Simpson-Golabi-Behmel syndrome type 2 (SGBS2; 300209), caused by mutation in the OFD1 gene (300170) on chromosome Xp22. [from OMIM]

Professional guidelines

PubMed

Comment on "Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome".
Fauth C, Toutain A
Prenat Diagn 2017 Oct;37(10):1055-1056. doi: 10.1002/pd.5137. PMID: 29057530
Prenatal diagnosis of Simpson-Golabi-Behmel syndrome.
Magini P, Palombo F, Boito S, Lanzoni G, Mongelli P, Rizzuti T, Baccarin M, Pippucci T, Seri M, Lalatta F
Am J Med Genet A 2016 Dec;170(12):3258-3264. Epub 2016 Sep 9 doi: 10.1002/ajmg.a.37873. PMID: 27612164
Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome.
Chen CP
Taiwan J Obstet Gynecol 2012 Jun;51(2):186-91. doi: 10.1016/j.tjog.2012.04.004. PMID: 22795092

Recent clinical studies

Etiology

Simpson-Golabi-Behmel syndrome.
Vaisfeld A, Neri G
Am J Med Genet C Semin Med Genet 2024 Dec;196(4):e32088. Epub 2024 May 20 doi: 10.1002/ajmg.c.32088. PMID: 38766979
Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature.
Cottereau E, Mortemousque I, Moizard MP, Bürglen L, Lacombe D, Gilbert-Dussardier B, Sigaudy S, Boute O, David A, Faivre L, Amiel J, Robertson R, Viana Ramos F, Bieth E, Odent S, Demeer B, Mathieu M, Gaillard D, Van Maldergem L, Baujat G, Maystadt I, Héron D, Verloes A, Philip N, Cormier-Daire V, Frouté MF, Pinson L, Blanchet P, Sarda P, Willems M, Jacquinet A, Ratbi I, Van Den Ende J, Lackmy-Port Lis M, Goldenberg A, Bonneau D, Rossignol S, Toutain A
Am J Med Genet C Semin Med Genet 2013 May;163C(2):92-105. Epub 2013 Apr 18 doi: 10.1002/ajmg.c.31360. PMID: 23606591
Sotos syndrome.
Baujat G, Cormier-Daire V
Orphanet J Rare Dis 2007 Sep 7;2:36. doi: 10.1186/1750-1172-2-36. PMID: 17825104Free PMC Article
Simpson Golabi Behmel syndrome: progress toward understanding the molecular basis for overgrowth, malformation, and cancer predisposition.
DeBaun MR, Ess J, Saunders S
Mol Genet Metab 2001 Apr;72(4):279-86. doi: 10.1006/mgme.2001.3150. PMID: 11286501
Cardiac anomalies in the Simpson-Golabi-Behmel syndrome.
Lin AE, Neri G, Hughes-Benzie R, Weksberg R
Am J Med Genet 1999 Apr 23;83(5):378-81. PMID: 10232747

Diagnosis

Simpson-Golabi-Behmel syndrome.
Vaisfeld A, Neri G
Am J Med Genet C Semin Med Genet 2024 Dec;196(4):e32088. Epub 2024 May 20 doi: 10.1002/ajmg.c.32088. PMID: 38766979
Tall stature in children and adolescents.
Urakami T
Minerva Pediatr 2020 Dec;72(6):472-483. Epub 2020 Aug 4 doi: 10.23736/S0026-4946.20.05971-X. PMID: 32748612
Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue.
Vaisfeld A, Pomponi MG, Pietrobono R, Tabolacci E, Neri G
Am J Med Genet A 2017 Jan;173(1):285-288. Epub 2016 Oct 14 doi: 10.1002/ajmg.a.38003. PMID: 27739211
Simpson-Golabi-Behmel syndrome types I and II.
Tenorio J, Arias P, Martínez-Glez V, Santos F, García-Miñaur S, Nevado J, Lapunzina P
Orphanet J Rare Dis 2014 Sep 20;9:138. doi: 10.1186/s13023-014-0138-0. PMID: 25238977Free PMC Article
Sotos syndrome.
Baujat G, Cormier-Daire V
Orphanet J Rare Dis 2007 Sep 7;2:36. doi: 10.1186/1750-1172-2-36. PMID: 17825104Free PMC Article

Therapy

Divergent effects of the antiretroviral drugs, dolutegravir, tenofovir alafenamide, and tenofovir disoproxil fumarate, on human adipocyte function.
Quesada-López T, Cereijo R, Blasco-Roset A, Mestres-Arenas A, Prieto P, Domingo JC, Villarroya F, Domingo P, Giralt M
Biochem Pharmacol 2024 Feb;220:116010. Epub 2023 Dec 26 doi: 10.1016/j.bcp.2023.116010. PMID: 38154544
Reduced circulating levels of chemokine CXCL14 in adolescent girls with polycystic ovary syndrome: normalization after insulin sensitization.
García-Beltran C, Cereijo R, Quesada-López T, Malpique R, López-Bermejo A, de Zegher F, Ibáñez L, Villarroya F
BMJ Open Diabetes Res Care 2020 Feb;8(1) doi: 10.1136/bmjdrc-2019-001035. PMID: 32107266Free PMC Article
Myostatin in relation to physical activity and dysglycaemia and its effect on energy metabolism in human skeletal muscle cells.
Hjorth M, Pourteymour S, Görgens SW, Langleite TM, Lee S, Holen T, Gulseth HL, Birkeland KI, Jensen J, Drevon CA, Norheim F
Acta Physiol (Oxf) 2016 May;217(1):45-60. Epub 2015 Dec 9 doi: 10.1111/apha.12631. PMID: 26572800
Genetics of obesity and overgrowth syndromes.
Sabin MA, Werther GA, Kiess W
Best Pract Res Clin Endocrinol Metab 2011 Feb;25(1):207-20. doi: 10.1016/j.beem.2010.09.010. PMID: 21396586
Glypican-3: a new target for cancer immunotherapy.
Ho M, Kim H
Eur J Cancer 2011 Feb;47(3):333-8. Epub 2010 Nov 26 doi: 10.1016/j.ejca.2010.10.024. PMID: 21112773Free PMC Article

Prognosis

SIMPSON-GOLABI-BEHMEL syndrome type 1: How placental immunohistochemistry can rapidly Predict the diagnosis.
Fiandrino G, Arossa A, Ghirardello S, Kalantari S, Rossi C, Bonasoni MP, Cesari S, Rizzuti T, Giorgio E, Bassanese F, Scatigno AL, Meroni A, Melito C, Feltri M, Longo S, Figar TA, Andorno A, Gelli MC, Bertozzi M, Spinillo A, Riccipetitoni G, Valente EM, Paulli M, Sirchia F
Placenta 2022 Aug;126:119-124. Epub 2022 Jun 30 doi: 10.1016/j.placenta.2022.06.011. PMID: 35796063
Tall stature in children and adolescents.
Urakami T
Minerva Pediatr 2020 Dec;72(6):472-483. Epub 2020 Aug 4 doi: 10.23736/S0026-4946.20.05971-X. PMID: 32748612
CUGC for Simpson-Golabi-Behmel syndrome (SGBS).
Vuillaume ML, Moizard MP, Baumer A, Cottereau E, Brioude F, Rauch A, Toutain A
Eur J Hum Genet 2019 Apr;27(4):663-668. Epub 2019 Jan 25 doi: 10.1038/s41431-019-0339-z. PMID: 30683921Free PMC Article
Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature.
Cottereau E, Mortemousque I, Moizard MP, Bürglen L, Lacombe D, Gilbert-Dussardier B, Sigaudy S, Boute O, David A, Faivre L, Amiel J, Robertson R, Viana Ramos F, Bieth E, Odent S, Demeer B, Mathieu M, Gaillard D, Van Maldergem L, Baujat G, Maystadt I, Héron D, Verloes A, Philip N, Cormier-Daire V, Frouté MF, Pinson L, Blanchet P, Sarda P, Willems M, Jacquinet A, Ratbi I, Van Den Ende J, Lackmy-Port Lis M, Goldenberg A, Bonneau D, Rossignol S, Toutain A
Am J Med Genet C Semin Med Genet 2013 May;163C(2):92-105. Epub 2013 Apr 18 doi: 10.1002/ajmg.c.31360. PMID: 23606591
Sotos syndrome.
Baujat G, Cormier-Daire V
Orphanet J Rare Dis 2007 Sep 7;2:36. doi: 10.1186/1750-1172-2-36. PMID: 17825104Free PMC Article

Clinical prediction guides

Human Genetics of Ventricular Septal Defect.
Perrot A, Rickert-Sperling S
Adv Exp Med Biol 2024;1441:505-534. doi: 10.1007/978-3-031-44087-8_27. PMID: 38884729
Tall stature in children and adolescents.
Urakami T
Minerva Pediatr 2020 Dec;72(6):472-483. Epub 2020 Aug 4 doi: 10.23736/S0026-4946.20.05971-X. PMID: 32748612
Simpson-Golabi-Behmel syndrome types I and II.
Tenorio J, Arias P, Martínez-Glez V, Santos F, García-Miñaur S, Nevado J, Lapunzina P
Orphanet J Rare Dis 2014 Sep 20;9:138. doi: 10.1186/s13023-014-0138-0. PMID: 25238977Free PMC Article
Sotos syndrome.
Baujat G, Cormier-Daire V
Orphanet J Rare Dis 2007 Sep 7;2:36. doi: 10.1186/1750-1172-2-36. PMID: 17825104Free PMC Article
Posterior helical pits.
Prescott TE, Hennekam RC
Eur J Med Genet 2007 Mar-Apr;50(2):159-61. Epub 2006 Nov 30 doi: 10.1016/j.ejmg.2006.11.003. PMID: 17223397

Recent systematic reviews

Ameloblastoma associated with syndromes: A systematic review.
Atarbashi-Moghadam S, Atarbashi-Moghadam F, Sijanivandi S, Mokhtari S
J Stomatol Oral Maxillofac Surg 2020 Apr;121(2):146-149. Epub 2019 Jul 20 doi: 10.1016/j.jormas.2019.07.010. PMID: 31336213

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