A new 6-bp SOX-3 polyalanine tract deletion does not segregate with mental retardation

Michele Salemi, Corrado Romano, Letizia Ragusa, Giuseppa Di Vita, Roberto Salluzzo, Ileana Oteri, Maria Luisa Trovato, Carmelo Romano, Filippo Caraci, Ferdinando Nicoletti, Paolo Bosco

Research output: Contribution to journalArticle

Abstract

SOX-3 is a transcription factor expressed throughout the developing central nervous system and is involved in maintenance of pluripotency in self-renewing stem cells, specification events, lineage progression, and terminal differentiation. An association between growth hormone deficiency, mental retardation, and Sox-3 mutations in humans was previously reported. The occurrence of abnormalities affecting the polyalanine tract of the Sox-3 gene was determined in a group of Unrelated mentally retarded patients without a definite genetic diagnosis and in 84 control subjects. A new SOX-3 polyalanine tract deletion was identified in a mentally impaired boy, in his mother (homozygous), and in 2 healthy brothers of the proband. This new mutation does not segregate with mental retardation.

Original languageEnglish
Pages (from-to)124-127
Number of pages4
JournalGenetic Testing
Volume11
Issue number2
DOIs
Publication statusPublished - Jun 2007

ASJC Scopus subject areas

  • Genetics(clinical)

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