STAR syndrome plus: The first description of a female patient with the lethal form

Maria F. Bedeschi, Sara Giangiobbe, Leda Paganini, Silvia Tabano, Rosamaria Silipigni, Lorenzo Colombo, Beatrice L. Crippa, Faustina Lalatta, Silvana Guerneri, Monica Miozzo

Research output: Contribution to journalArticle

Abstract

The STAR syndrome is a rare X-linked dominant developmental disorder caused by point mutations in the single FAM58A gene or deletions involving FAM58A and its flanking genes. The STAR phenotype is characterized by a rather homogeneous constellation of facial dysmorphisms and malformations summarized by its acronym, Syndactyly, Telecanthus, Anogenital, and Renal malformations. Here we describe a female patient with STAR syndrome and a 130kb deletion at Xq28, including the FAM58A gene. She presented with cleft lip palate, omphalocele, and cerebral malformations not previously considered part of the phenotypic spectrum of this syndrome. She died at 6 weeks from respiratory failure.

Original languageEnglish
Pages (from-to)3226-3230
JournalAmerican Journal of Medical Genetics, Part A
Volume173
Issue number12
DOIs
Publication statusPublished - 2017

Keywords

  • FAM58A
  • STAR syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'STAR syndrome plus: The first description of a female patient with the lethal form'. Together they form a unique fingerprint.

  • Cite this