| H01497 | |
| H number | H01497 |
| Name | Temtamy preaxial brachydactyly syndrome |
| Description | Temtamy preaxial brachydactyly syndrome (TPBS) is an autosomal recessive rare disorder that is caused by the mutations in the CHSY1 gene. CHSY1 encodes chondroitin synthase 1 involving in the biosynthesis of chondroitin sulfate and perhaps affecting bone morphogenetic protein (BMP) signaling. The loss-of-function mutations in the protein cause defects in multiple development processes. The major features include limb malformations, short stature, hearing loss, delayed motor and mental development, facial dysmorphism and dental anomalies. |
| Category | Congenital malformation |
| Network | nt06029(H01497) Glycosaminoglycan biosynthesis |
| Gene | CHSY1 [HSA:22856] [KO:K13499] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD26.6Y ICD-10: Q87.2 MeSH: C536958 OMIM: 605282 |
| Reference | PMID:21129728 AUTHORS Li Y, Laue K, Temtamy S, Aglan M, Kotan LD, Yigit G, Canan H, Pawlik B, Nurnberg G, Wakeling EL, Quarrell OW, Baessmann I, Lanktree MB, Yilmaz M, Hegele RA, Amr K, May KW, Nurnberg P, Topaloglu AK, Hammerschmidt M, Wollnik B TITLE Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling. JOURNAL Am J Hum Genet 87:757-67 (2010) DOI:10.1016/j.ajhg.2010.10.003 PMID:24269551 AUTHORS Sher G, Naeem M TITLE A novel CHSY1 gene mutation underlies Temtamy preaxial brachydactyly syndrome in a Pakistani family. JOURNAL Eur J Med Genet 57:21-4 (2014) DOI:10.1016/j.ejmg.2013.11.001 |