A patient with a unique frameshift mutation in GPC3, causing Simpson-Golabi-Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle

Diana D. Villarreal, Humberto Villarreal, Ana Maria Paez, Dennis Peppas, Jane Lynch, Elizabeth Roeder, George C. Powers

Research output: Contribution to journalArticle

7 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)3121-3125
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Issue number12
Publication statusPublished - Dec 1 2013



  • Adrenal insufficiency
  • Ambiguous genitalia
  • Coronal synostosis
  • Craniosynostosis
  • Diaphragmatic hernia
  • Glypican 3
  • Hypospadias
  • Large for gestational age
  • Prostatic utricle
  • Simpson-Golabi-Behmel syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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