Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects.
Hum Mutat
; 28(7): 732-8, 2007 Jul.
Article
em En
| MEDLINE
| ID: mdl-17377962
ABSTRACT
Studies of human chromosomal aberrations and knockout (KO) mice have suggested SATB2 as a candidate gene for a human malformation syndrome of craniofacial patterning and brain development. Of 59 unrelated patients with craniofacial dysmorphism, with or without mental retardation, one 36-year-old man had a nonsynonymous mutation in SATB2. The affected individual exhibited craniofacial dysmorphisms including cleft palate, generalized osteoporosis, profound mental retardation, epilepsy and a jovial personality. He carries a de novo germline nonsense mutation (c.715C>T, p.R239X) in the exon 6 of SATB2. Expression studies showed that the mutant RNA was stable, expected to produce a truncated protein predicted to retain its dimerization domain and exert a dominant negative effect. This new syndrome is the first determined to result from mutation of a gene within the family that encodes nuclear matrix-attachment region (MAR) proteins.
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Base de dados:
MEDLINE
Assunto principal:
Osteoporose
/
Fatores de Transcrição
/
Fissura Palatina
/
Transtornos Cognitivos
/
Códon sem Sentido
/
Proteínas de Ligação à Região de Interação com a Matriz
/
Heterozigoto
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Adult
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2007
Tipo de documento:
Article