Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue
| Autor: | Alessandro Vaisfeld, Elisabetta Tabolacci, Maria Grazia Pomponi, Roberta Pietrobono, Giovanni Neri |
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| Rok vydání: | 2016 |
| Předmět: |
Heart Defects
Congenital 0301 basic medicine Biology Settore MED/03 - GENETICA MEDICA Compound heterozygosity Bioinformatics Glypican 3 GPC3 overgrowth syndrome SGBS in a female Simpson–Golabi–Behmel syndrome X-inactivation Genetics Genetics (clinical) Gigantism 03 medical and health sciences Glypicans Intellectual Disability medicine Humans Skewed X-inactivation Genetic Association Studies Sequence Deletion Comparative Genomic Hybridization Facies Infant Arrhythmias Cardiac Genetic Diseases X-Linked Sequence Analysis DNA medicine.disease Phenotype 030104 developmental biology Overgrowth syndrome Female Microsatellite Repeats |
| Zdroj: | American Journal of Medical Genetics Part A. 173:285-288 |
| ISSN: | 1552-4825 |
| DOI: | 10.1002/ajmg.a.38003 |
| Popis: | Simpson-Golabi-Behmel syndrome is an X-linked recessive overgrowth condition caused by alterations in GPC3 gene, encoding for the cell surface receptor glypican 3, whose clinical manifestations in affected males are well known. Conversely, there is little information regarding affected females, with very few reported cases, and a clinical definition of this phenotype is still lacking. In the present report we describe an additional case, the first to receive a primary molecular diagnosis based on strong clinical suspicion. Possible explanations for full clinical expression of X-linked recessive conditions in females include several mechanisms, such as skewed X inactivation or homozygosity/compound heterozygosity of the causal mutation. Both of these were excluded in our case. Given that the possibility of full expression of SGBS in females is now firmly established, we recommend that GPC3 analysis be performed in all suggestive female cases. © 2016 Wiley Periodicals, Inc. |
| Databáze: | OpenAIRE |
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