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Updated: Jul 13, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
A new 6-bp SOX-3 polyalanine tract deletion does not segregate with mental retardation
Michele Salemi1, Corrado Romano, Letizia Ragusa
1Laboratorio di Citogenetica, Oasi Institute for Research on Mental Retardation and Brain Aging, 94018 Troina, Italy.
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.
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