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

• Published in: Genetic testing Vol. 11; no. 2; p. 124
• Main Authors: Salemi, Michele, Romano, Corrado, Ragusa, Letizia, Di Vita, Giuseppa, Salluzzo, Roberto, Oteri, Ileana, Trovato, Maria Luisa, Romano, Carmelo, Caraci, Filippo, Nicoletti, Ferdinando, Bosco, Paolo
• Format: Journal Article
• Language: English
• Published: United States 01-06-2007
• Subjects: Adolescent; Adult; Aged; Base Sequence; Child; Child, Preschool; DNA-Binding Proteins - genetics; Female; High Mobility Group Proteins - genetics; Homozygote; Humans; Intellectual Disability - genetics; Male; Middle Aged; Molecular Sequence Data; Peptides; Reference Values; Sequence Deletion; SOXB1 Transcription Factors; Transcription Factors - genetics
• ISSN: 1090-6576
• DOI: 10.1089/gte.2006.0510

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 77 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.