CASE REPORT
A rare case of family suffering from Simpson-Golabi-Behmel syndrome with an uncommon manifestation in a mother and 2 sons
1
Student Scientific Group at the Department of Paediatrics, Gastroenterology and Nutrition, Jagiellonian University Medical College, Kraków, Poland
2
Department of Paediatrics, Gastroenterology, and Nutrition, Faculty of Medicine, Jagiellonian University Medical College, Kraków, Poland
Submission date: 2023-06-22
Final revision date: 2023-08-12
Acceptance date: 2023-08-16
Publication date: 2023-09-30
Corresponding author
Kinga Kowalska-Duplaga
Kinga Kowalska-Duplaga, MD, PhD, Department of Paediatrics, Gastroenterology and Nutrition Faculty of Medicine, Jagiellonian University Medical College, 265 Wielicka St., 30-663 Kraków, Poland
Kinga Kowalska-Duplaga, MD, PhD, Department of Paediatrics, Gastroenterology and Nutrition Faculty of Medicine, Jagiellonian University Medical College, 265 Wielicka St., 30-663 Kraków, Poland
Pediatr Pol 2024;99(1):77-83
KEYWORDS
Simpson-Golabi-Behmel syndromeSGBScongenital malformation syndromeGPC3 gene mutationexcessive growth
TOPICS
ABSTRACT
Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked disorder resulting from mutations in the genes GPC3 or GPC4. Symptoms of SGBS vary but commonly include overgrowth, craniofacial dysmorphias, and multiple birth defects. This syndrome has 2 subtypes, known as type I and type II. This report presents a case of SGBS occurring in several members of the same family, showing varying symptoms, including an 8-year-old boy, his older brother, mother, and mother’s maternal half-brother. Exome sequencing identified the c.1159C > T variant of the GPC3 gene in all members of the family mentioned above. Family history suggests that the maternal grandmother of the reported boys also presented symptoms of SGBS, although she was never tested. The purpose of this study is to present various clinical manifestations of SGBS, which may assist clinicians. We also note the manifestation of SGBS in a female because it is uncommon for carriers of the gene to present symptoms.
REFERENCES (25)
1.
Sajorda BJ, Gonzalez-Gandolfi CX, Hathaway ER, Kalish JM. Simpson-Golabi-Behmel syndrome type 1. University of Washington, Seattle 2006.
2.
Vuillaume ML, Moizard MP, Rossignol S, et al. Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature. Hum Mutat 2018; 39: 790-805.
3.
Tenorio J, Arias P, Martínez-Glez V, et al. Simpson-Golabi-Behmel syndrome types I and II. Orphanet J Rare Dis 2014; 9: 138.
4.
Vuillaume ML, Moizard MP, Hammouche E, et al. Are all Xq26.2 duplications overlapping GPC3 on array-CGH a cause of Simpson- Golabi-Behmel syndrome? When do we need transcript analysis? Clin Genet 2018; 93: 1111-1113.
6.
Abe Y, Hirade T, Koike D, Matama C, Kato F. Laryngeal web with 22q11.2 deletion syndrome. Int J Pediatr Adolesc Med 2022; 9: 182-184.
7.
Glamuzina E, Aftimos S, Keesing M, Mahadevan M. New airway and swallow manifestations of Simpson-Golabi-Behmel syndrome. Int J Pediatr Otorhinolaryngol 2009; 73: 1464-1466.
8.
Garavelli L, Gargano G, Simonte G, et al. Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasia. Am J Med Genet A 2012; 158: 2245-2249.
9.
Avaialble from: https://www.ncbi.nlm.nih.gov/c... 11694/?fbclid=IwAR0XrH8qHEw8l1YTKbNGJ4YCvQrm50lvRqkGOIJzikSGnKeZaWZ_xFHgPQ0.
10.
Available from: https://www.omim.org/entry/312..., “SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1 # 312870.
11.
Cottereau E, Mortemousque I, Moizard MP, et al. Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature. Am J Med Genet C Semin Med Genet 2013; 163: 92-105.
12.
Elliott M, Maher ER, Elliott M, Maher ER. Syndrome of the month Beckwith-Wiedemann syndrome. Correspondence to... Available: http://jmg.bmj.com/.
13.
Shuman C, Kalish JM, Weksberg R, et al. Beckwith-Wiedemann Syndrome. In: GeneReviews® [Internet]. University of Washington, Seattle 1993.
14.
Nagpal R, Goyal RB, Priyadarshini K, et al. Mucopolysaccharidosis: a broad review. Indian J Ophthalmol 2022; 70: 2249-2261.
15.
Thomas M, Enciso V, Stratton R, et al. Metastatic medulloblastoma in an adolescent with Simpson-Golabi-Behmel syndrome. Am J Med Genet A 2012; 158: 2534-2536.
16.
Liu J, Liu Q, Yang S, et al. Prenatal case of Simpson-Golabi-Behmel syndrome with a de novo 370Kb-sized microdeletion of Xq26.2 compassing partial GPC3 gene and review. Mol Genet Genomic Med 2021; 9: e1750.
17.
Chong K, Saleh M, Injeyan M, Miron I, Fong K, Shannon P. Nonisolated diaphragmatic hernia in Simpson-Golabi-Behmel syndrome. Prenat Diagn 2018; 38: 117-122.
18.
Reischer T, Laccone F, Kasprian GJ, Yerlikaya-Schatten G. Simpson- Golabi-Behmel-syndrome in dichorionic-diamniotic twin pregnancy. Clin Practi 2021; 11: 75-80.
19.
Young M. Political representation, identity and minorities. Lua Nova 2006; 67: 139-190.
20.
Verloes A, Massart B, Dehalleux I, Langhendries JP, Koulis- cher L. Clinical overlap of Beckwith-Wiedemann, Perlman and Simpson-Golabi-Behmel syndromes: a diagnostic pitfall. Clin Genet 1995; 47: 257-262.
21.
Demir N, Peker E, Ece I, Kaba S, Doğan M, Tuncer O. A male newborn with Simpson-Golabi-Behmel syndrome, presenting with metopic synostosis, anal atresia, and total anomalous pulmonary venous return. Genet Couns 2014; 25: 439-443.
22.
Romanelli V, Arroyo I, Rodriguez JI, et al. Germinal mosaicism in Simpson-Golabi-Behmel syndrome. Clin Genet 2007; 72: 384-386.
23.
Terespolsky D, Farrell SA, Siegel-Bartelt J, Weksberg R. Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis. Am J Med Genet 1995; 59: 329-333.
24.
Fernandes C, Paúl A, Venâncio MM, Ramos F. Simpson-Golabi- Behmel syndrome: one family, same mutation, different outcome. Am J Med Genet A 2021; 185: 2502-2506.
25.
Schirwani S, Novelli A, Digilio MC, et al. Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson- Golabi-Behmel syndrome type 1. Eur J Med Genet 2019; 62: 243-247.
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