A new 6-bp SOX-3 polyalanine tract deletion does not segregate with mental retardation.
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.
Salemi
Michele
M
Laboratorio di Citogenetica, Oasi Institute for Research on Mental Retardation and Brain Aging, 94018 Troina, Italy.
Romano
Corrado
C
Ragusa
Letizia
L
Di Vita
Giuseppa
G
Salluzzo
Roberto
R
Oteri
Ileana
I
Trovato
Maria Luisa
ML
Romano
Carmelo
C
Caraci
Filippo
F
Nicoletti
Ferdinando
F
Bosco
Paolo
P
D000293:Adolescent; D000328:Adult; D000368:Aged; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006609:High Mobility Group Proteins / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010455:Peptides; D012016:Reference Values; D055748:SOXB1 Transcription Factors; D017384:Sequence Deletion; D014157:Transcription Factors / Q000235:genetics*
D004268:DNA-Binding Proteins; D006609:High Mobility Group Proteins; D010455:Peptides; C527785:SOX3 protein, human; D055748:SOXB1 Transcription Factors; D014157:Transcription Factors; C019529:polyalanine