Simpson–Golabi–Behmel syndrome in a female: A case report and an unsolved issue

Elisabetta Tabolacci, Alessandro Vaisfeld, Maria Grazia Pomponi, Roberta Pietrobono, Giovanni Neri

Risultato della ricerca: Contributo in rivistaArticolo in rivista

8 Citazioni (Scopus)

Abstract

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.
Lingua originaleEnglish
pagine (da-a)285-288
Numero di pagine4
RivistaAMERICAN JOURNAL OF MEDICAL GENETICS. PART A
Volume173
DOI
Stato di pubblicazionePubblicato - 2017

Keywords

  • GPC3
  • Genetics
  • Genetics (clinical)
  • SGBS in a female
  • Simpson–Golabi–Behmel syndrome
  • X-inactivation
  • overgrowth syndrome

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