title: A novel CHSY1 gene mutation underlies Temtamy preaxial brachydactyly syndrome in a Pakistani family.
abstract: Temtamy preaxial brachydactyly syndrome (TPBS) is an autosomal recessive rare disorder characterized by hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation. Loss of function mutations have been recently reported in the CHSY1 gene to cause the TPBS. Here, we report a novel missense mutation (c.1897 G > A) in the CHSY1 gene in two TPBS patients from a consanguineous Pakistani family. The mutation predicted substitution of a highly conserved aspartate amino acid residue to asparagine at position 633 in the protein (D633N). Polyphen analysis supported the pathogenicity of D36N mutation. Our finding extends the body of recent evidence that supports the role of CHSY1 as a potential mediator of BMP signaling.
authors.affiliation: Department of Biotechnology, Quaid-i-Azam University, Islamabad 45320, Pakistan.
authors.forename: Gulab
authors.initials: G
authors.lastname: Sher
authors.affiliation: Department of Biotechnology, Quaid-i-Azam University, Islamabad 45320, Pakistan. Electronic address: mnaeemqau@gmail.com.
authors.forename: Muhammad
authors.initials: M
authors.lastname: Naeem
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D059327:Brachydactyly / Q000000981:diagnostic imaging / Q000235:genetics*; D002648:Child; D003241:Consanguinity; D017124:Conserved Sequence; D004252:DNA Mutational Analysis; D003638:Deafness / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D014453:Glucuronosyltransferase; D006801:Humans; D008607:Intellectual Disability / Q000000981:diagnostic imaging / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009056:Mouth Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics*; D064251:Multifunctional Enzymes; D020125:Mutation, Missense; D017350:N-Acetylgalactosaminyltransferases / Q000235:genetics*; D010154:Pakistan; D010375:Pedigree; D011859:Radiography; D014071:Tooth Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics*; D055815:Young Adult
chemical_list: D064251:Multifunctional Enzymes; D017350:N-Acetylgalactosaminyltransferases; D014453:Glucuronosyltransferase; C498800:CHSY1 protein, human
keywords: BMP; Brachydactyly; CHSY1; Mutation; Signaling; Syndrome