We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
A rare case of family suffering from Simpson-Golabi-Behmel syndrome with an uncommon manifestation in a mother and 2 sons.
- Authors
Możdżeń, Kamil; Murawska, Agnieszka; Hypnar, Julia; Pędziwiatr, Edward; Pośpiech, Jakub; Kowalska-Duplaga, Kinga
- 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.
- Subjects
ABNORMALITIES in the anatomical extremities; CARDIOVASCULAR system abnormalities; MOUTH abnormalities; FAMILY history (Medicine); FACIAL bone abnormalities; INTELLECTUAL disabilities; X-linked genetic disorders; CASE studies; CRANIOFACIAL abnormalities; GROWTH disorders; SYMPTOMS
- Publication
Polish Journal of Pediatrics / Pediatria Polska, 2024, Vol 99, Issue 1, p77
- ISSN
0031-3939
- Publication type
Article
- DOI
10.5114/polp.2023.131546