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 language | English |
|---|---|
| Pages (from-to) | 124-127 |
| Number of pages | 4 |
| Journal | Genetic Testing |
| Volume | 11 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - Jun 2007 |
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ASJC Scopus subject areas
- Genetics(clinical)
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A new 6-bp SOX-3 polyalanine tract deletion does not segregate with mental retardation. / Salemi, Michele; Romano, Corrado; Ragusa, Letizia; Di Vita, Giuseppa; Salluzzo, Roberto; Oteri, Ileana; Trovato, Maria Luisa; Romano, Carmelo; Caraci, Filippo; Nicoletti, Ferdinando; Bosco, Paolo.
In: Genetic Testing, Vol. 11, No. 2, 06.2007, p. 124-127.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - A new 6-bp SOX-3 polyalanine tract deletion does not segregate with mental retardation
AU - Salemi, Michele
AU - Romano, Corrado
AU - Ragusa, Letizia
AU - Di Vita, Giuseppa
AU - Salluzzo, Roberto
AU - Oteri, Ileana
AU - Trovato, Maria Luisa
AU - Romano, Carmelo
AU - Caraci, Filippo
AU - Nicoletti, Ferdinando
AU - Bosco, Paolo
PY - 2007/6
Y1 - 2007/6
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=34447251218&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=34447251218&partnerID=8YFLogxK
U2 - 10.1089/gte.2006.0510
DO - 10.1089/gte.2006.0510
M3 - Article
C2 - 17627381
AN - SCOPUS:34447251218
VL - 11
SP - 124
EP - 127
JO - Genetic Testing
JF - Genetic Testing
SN - 1090-6576
IS - 2
ER -