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.

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; Nicoletti, Ferdinando; Paolo, Bosco. - 11:2(2007), pp. 124-127. [10.1089/gte.2006.0510]

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

NICOLETTI, Ferdinando;
2007

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 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.
2007
01 Pubblicazione su rivista::01a Articolo in rivista
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; Nicoletti, Ferdinando; Paolo, Bosco. - 11:2(2007), pp. 124-127. [10.1089/gte.2006.0510]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/17878
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