Defective CHSY1 causes TPBS

Stable Identifier
R-HSA-3595177
Type
Pathway
Species
Homo sapiens
Synonyms
Defective CHSY1 causes temtamy preaxial brachydactyly syndrome
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Chondroitin sulfate synthases (CHSY) are involved in the synthesis of chondroitin sulfate, adding alternatingly glucuronate (GlcA) and N-acetylgalactosamine (GalNAc) to the growing chondroitin polymer (Mizumoto et al. 2013). Defects in CHSY1 cause temtamy preaxial brachydactyly syndrome (TPBS; MIM:605282), a syndrome characterized by multiple congenital anomalies, mental retardation, sensorineural deafness, growth retardation and bilateral symmetric digital anomalies mainly in the form of preaxial brachydactyly (literally, shortness of fingers and toes) and hyperphalangism (Temtamy et al. 1998, Race et al. 2010, Tian et al. 2010).

Literature References
PubMed ID Title Journal Year
21129727 Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling

Tian, J, Ling, L, Shboul, M, Lee, H, O'Connor, B, Merriman, B, Nelson, SF, Cool, S, Ababneh, OH, Al-Hadidy, A, Masri, A, Hamamy, H, Reversade, B

Am J Hum Genet 2010
23457301 Human genetic disorders caused by mutations in genes encoding biosynthetic enzymes for sulfated glycosaminoglycans

Mizumoto, S, Ikegawa, S, Sugahara, K

J. Biol. Chem. 2013
19952732 A distinct autosomal recessive disorder of limb development with preaxial brachydactyly, phalangeal duplication, symphalangism and hyperphalangism

Race, H, Hall, CM, Harrison, MG, Quarrell, OW, Wakeling, EL

Clin. Dysmorphol. 2010
9823490 A new multiple congenital anomaly, mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies

Temtamy, SA, Meguid, NA, Ismail, SI, Ramzy, MI

Clin. Dysmorphol. 1998
Participants
Participant Of
Disease
Name Identifier Synonyms
brachydactyly 0050581
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