title: ZRS 406A>G mutation in patients with tibial hypoplasia, polydactyly and triphalangeal first fingers.
abstract: Werner mesomelic syndrome (WMS), an autosomal dominant disorder characterized by hypoplastic tibiae, triphalangeal thumbs and polydactyly, is caused by a specific point mutation at the position 404 in zone of polarizing activity regulatory sequence (ZRS). Here we identified two additional families with WMS. All three patients in three generations of Family 1 were found to harbor the same heterozygous 406A>G mutation in ZRS. The fourth patient from Family 2 was a sporadic case with the known 404 point mutation. The novel 406A>G mutation expands mutational spectrum in ZRS causing WMS, provides evidence for a functionally important nucleotide position 406 of ZRS in humans and has implications for genetic counseling.
authors: 1] Doctor of Philosophy Program in Medical Sciences, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand [2] Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
authors: Phatchara
authors: P
authors: Norbnop
authors: 1] Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand [2] Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, Thailand.
authors: Chalurmpon
authors: C
authors: Srichomthong
authors: 1] Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand [2] Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, Thailand.
authors: Kanya
authors: K
authors: Suphapeetiporn
authors: 1] Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand [2] Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, Thailand.
authors: Vorasuk
authors: V
authors: Shotelersuk
mesh_terms: D000328:Adult; D002675:Child, Preschool; D004742:Enhancer Elements, Genetic / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D046912:Multiprotein Complexes; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D017689:Polydactyly / Q000235:genetics*; D013933:Thumb / Q000002:abnormalities*; D013977:Tibia / Q000002:abnormalities*
chemical_list: D046912:Multiprotein Complexes