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Hum Mutat. 2007 Jul;28(7):732-8.

Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects.

Author information

1
Department of Pediatrics, Chulalongkorn University, Bangkok, Thailand.

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.

PMID:
17377962
DOI:
10.1002/humu.20515
[Indexed for MEDLINE]

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