Simpson‐Golabi‐Behmel syndrome: One family, same mutation, different outcome

Simpson‐Golabi‐Behmel syndrome (SGBS) is a rare X‐linked condition characterized by pre and postnatal overgrowth with visceral and skeletal abnormalities. The syndrome is caused mainly by mutations in the X‐linked gene GPC3. Clinical presentation of SGBS in affected males is well defined, but there...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2021-08, Vol.185 (8), p.2502-2506
Main Authors: Fernandes, Carla, Paúl, Alexandra, Venâncio, Maria Margarida, Ramos, Fabiana
Format: Article
Language:English
Subjects:
Alleles
Arrhythmias, Cardiac - diagnosis
Arrhythmias, Cardiac - genetics
Biopsy
Congenital defects
DNA Mutational Analysis
Facies
Female
Females
Genes, X-Linked
Genetic Association Studies - methods
Genetic Diseases, X-Linked - diagnosis
Genetic Diseases, X-Linked - genetics
Genetic Predisposition to Disease
Genotype
Gigantism - diagnosis
Gigantism - genetics
Glypicans - genetics
GPC3
Heart Defects, Congenital - diagnosis
Heart Defects, Congenital - genetics
Humans
Infant
Intellectual Disability - diagnosis
Intellectual Disability - genetics
Male
Mutation
overgrowth
Patients
Pedigree
Phenotype
Simpson‐Golabi‐Behmel syndrome
Wilms' tumor
X Chromosome Inactivation
X‐linked disorder
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Summary:Simpson‐Golabi‐Behmel syndrome (SGBS) is a rare X‐linked condition characterized by pre and postnatal overgrowth with visceral and skeletal abnormalities. The syndrome is caused mainly by mutations in the X‐linked gene GPC3. Clinical presentation of SGBS in affected males is well defined, but there is a lack of knowledge about affected females, with very few reported cases. In total, eight female carriers with clinical expression of SGBS have been reported to date. In the present report, we describe the ninth patient and her family history. The interesting features of our female patient are the Wilms' tumor and the transfontanelar ultrasound findings. The patient's older sister, carrier of the same mutation, has minor facial dysmorphisms but no congenital anomalies and so far, no further clinical findings, as well as her mother and grandmother. There is a lesson to be learned from these rare cases, namely that SGBS may have a significant clinical expression in females, and therefore, screening should be considered in all patients with SGBS regardless of the sex or phenotypic severity.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.62263