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A patient with a unique frameshift mutation in GPC3 , causing Simpson–Golabi–Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle
Author(s) -
Villarreal Diana D.,
Villarreal Humberto,
Paez Ana Maria,
Peppas Dennis,
Lynch Jane,
Roeder Elizabeth,
Powers George C.
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36086
Subject(s) - hypospadias , frameshift mutation , craniosynostosis , medicine , agamidae , biology , mutation , genetics , surgery , gene , zoology , lizard
We present a Hispanic male with the clinical and molecular diagnosis of Simpson–Golabi–Behmel syndrome (SGBS). The patient was born with multiple anomalies not entirely typical of SGBS patients, including penoscrotal hypospadias, a large prostatic utricle, and left coronal craniosynostosis. In addition, he demonstrated endocrine anomalies including a low random cortisol level suspicious for adrenal insufficiency and low testosterone level. To our knowledge, this is the first report of a prostatic utricle in SGBS and the second report of craniosynostosis. The unique disease‐causing mutation likely arose de novo in the mother. It is a deletion‐insertion that leads to a frameshift at the p.S349 residue of GPC3 and a premature stop codon after five more amino acids. P.S349 is the same residue that is normally cleaved by the Furin convertase, although the significance of this novel mutation with respect to the patient's multiple anomalies is unknown. We present this case as the perinatal course of a patient with unique features of SGBS and a confirmed molecular diagnosis. © 2013 Wiley Periodicals, Inc.