Defective B3GAT3 causes JDSSDHD

Stable Identifier
R-HSA-3560801
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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Defective B3GAT3 causes JDSSDHD
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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
21763480 Faulty initiation of proteoglycan synthesis causes cardiac and joint defects

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

Am. J. Hum. Genet. 2011
14779259 Multiple congenital dislocations associated with characteristic facial abnormality

LARSEN, LJ, SCHOTTSTAEDT, ER, BOST, FC

J. Pediatr. 1950
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

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

J. Med. Genet. 1992
Participants
Events
Participates
as an event of
Disease
Name Identifier Synonyms
Larsen syndrome DOID:14764 dominant larsen syndrome
congenital heart defect DOID:1682 Congenital anomaly of heart, Congenital Heart Defects, heart defect, Heart Malformation
Cross References
BioModels Database
Authored
Jassal, B  (2013-05-21)
Reviewed
Spillmann, D  (2014-07-09)
Created
Jassal, B  (2013-05-21)
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