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: Gulab Sher, Muhammad Naeem
• Journal: European journal of medical genetics (Eur J Med Genet) Vol. 57 Issue 1 Pg. 21-4 (Jan 2014) ISSN: 1878-0849 [Electronic] Netherlands
• PMID: 24269551 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2013 Elsevier Masson SAS. All rights reserved.

Chemical References

• Multifunctional Enzymes
• N-Acetylgalactosaminyltransferases
• Glucuronosyltransferase
• CHSY1 protein, human

Topics

• Amino Acid Sequence
• Base Sequence
• Brachydactyly (diagnostic imaging, genetics)
• Child
• Consanguinity
• Conserved Sequence
• DNA Mutational Analysis
• Deafness (diagnostic imaging, genetics)
• Female
• Genetic Association Studies
• Glucuronosyltransferase
• Humans
• Intellectual Disability (diagnostic imaging, genetics)
• Male
• Molecular Sequence Data
• Mouth Abnormalities (diagnostic imaging, genetics)
• Multifunctional Enzymes
• Mutation, Missense
• N-Acetylgalactosaminyltransferases (genetics)
• Pakistan
• Pedigree
• Radiography
• Tooth Abnormalities (diagnostic imaging, genetics)
• Young Adult