title: Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects.
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.
authors: Department of Pediatrics, Chulalongkorn University, Bangkok, Thailand.
authors: Petcharat
authors: P
authors: Leoyklang
authors: Kanya
authors: K
authors: Suphapeetiporn
authors: Pichit
authors: P
authors: Siriwan
authors: Tayard
authors: T
authors: Desudchit
authors: Pattraporn
authors: P
authors: Chaowanapanja
authors: William A
authors: WA
authors: Gahl
authors: Vorasuk
authors: V
authors: Shotelersuk
mesh_terms: D000328:Adult; D001483:Base Sequence; D002972:Cleft Palate / Q000235:genetics*; D018389:Codon, Nonsense; D003072:Cognition Disorders / Q000235:genetics*; D017931:DNA Primers; D005091:Exons; D006579:Heterozygote; D006801:Humans; D008297:Male; D036961:Matrix Attachment Region Binding Proteins / Q000235:genetics*; D010024:Osteoporosis / Q000235:genetics*; D016133:Polymerase Chain Reaction; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D017931:DNA Primers; D036961:Matrix Attachment Region Binding Proteins; C521297:SATB2 protein, human; D014157:Transcription Factors