title: Study of the poliovirus receptor related-1 gene in Thai patients with non-syndromic cleft lip with or without cleft palate.
abstract: Non-syndromic cleft lip with or without cleft palate (CL/P) has a complex etiology with several genetic and environmental factors playing a role. The poliovirus receptor related-1 gene (PVRL1) has been shown to underlie a syndromic form of CL/P and, in some populations, contribute to non-syndromic CL/P. To investigate whether mutations in PVRL1 play a part in the formation of non-syndromic CL/P in the Thai population, 100CL/P patients were analyzed for mutations in PVRL1 by polymerase chain reaction amplification and direct sequencing of all the coding regions of its alpha isoform. Of this series of patients, one was found to be heterozygous for 1183G>A in exon 6, expected to result in the substitution of a valine by a methionine at position 395 (V395M). This mutation was not found in 200 unaffected Thai control individuals. The valine position is conserved across all known mammalian PVRL1 sequences. In conclusion, a novel non-synonymous PVRL1 mutation was found in a Thai patient with non-syndromic CL/P, suggesting a possible etiologic role of PVRL1 in non-syndromic CL/P across different populations.
authors: Department of Pediatrics, Division of Medical Genetics and Metabolism, Chulalongkorn University, Bangkok, Thailand.
authors: S
authors: S
authors: Tongkobpetch
authors: K
authors: K
authors: Suphapeetiporn
authors: P
authors: P
authors: Siriwan
authors: V
authors: V
authors: Shotelersuk
mesh_terms: D000225:Adenine; D000595:Amino Acid Sequence / Q000235:genetics; D016022:Case-Control Studies; D015815:Cell Adhesion Molecules / Q000235:genetics*; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D017124:Conserved Sequence / Q000235:genetics; D005091:Exons / Q000235:genetics; D005784:Gene Amplification; D006147:Guanine; D006579:Heterozygote; D006801:Humans; D008715:Methionine / Q000235:genetics; D009154:Mutation / Q000235:genetics; D000075983:Nectins; D016366:Open Reading Frames / Q000235:genetics; D016133:Polymerase Chain Reaction; D020033:Protein Isoforms / Q000235:genetics; D017422:Sequence Analysis, DNA; D013785:Thailand; D014633:Valine / Q000235:genetics
chemical_list: D015815:Cell Adhesion Molecules; C000619010:NECTIN1 protein, human; D000075983:Nectins; D020033:Protein Isoforms; D006147:Guanine; D008715:Methionine; D014633:Valine; D000225:Adenine