Defective B3GAT3 causes JDSSDHD

Stable Identifier
R-HSA-3560801
Type
Pathway
Species
Homo sapiens
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Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferases1, 2 and 3 (B3GAT1-3) are involved in forming the linker tetrasaccharide present in heparan sulfate and chondroitin sulfate. Defects in B3GAT3 cause multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects (JDSSDHD; MIM:245600). This is an autosomal recessive disease characterized by dysmorphic facies, elbow, hip and knee dislocations, clubfeet, short stature and cardiovascular defects (Steel & Kohl 1972, Bonaventure et al. 1992, Baasanjav et al. 2011). JDSSDHD has phenotypic similarities to Larsen syndrome (Larsen et al. 1950).

Literature References
PubMed ID Title Journal Year
14779259 Multiple congenital dislocations associated with characteristic facial abnormality

LARSEN, LJ, SCHOTTSTAEDT, ER, BOST, FC

J. Pediatr. 1950
21763480 Faulty initiation of proteoglycan synthesis causes cardiac and joint defects

Baasanjav, S, Al-Gazali, L, Hashiguchi, T, Mizumoto, S, Fischer, B, Horn, D, Seelow, D, Ali, BR, Aziz, SA, Langer, R, Saleh, AA, Becker, C, Nürnberg, G, Cantagrel, V, Gleeson, JG, Gomez, D, Michel, JB, Stricker, S, Lindner, TH, Nürnberg, P, Sugahara, K, Mundlos, S, Hoffmann, K

Am. J. Hum. Genet. 2011
4626580 Multiple congenital dislocations associated with other skeletal anomalies (Larsen's syndrome) in three siblings

Steel, HH, Kohl, EJ

J Bone Joint Surg Am 1972
1640425 Linkage studies of four fibrillar collagen genes in three pedigrees with Larsen-like syndrome

Bonaventure, J, Lasselin, C, Mellier, J, Cohen-Solal, L, MAROTEAUX, P

J. Med. Genet. 1992
Participants
Participant Of
Disease
Name Identifier Synonyms
congenital heart defect 1682 Congenital anomaly of heart, Congenital Heart Defects, heart defect, Heart Malformation
Larsen syndrome 14764 dominant larsen syndrome
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