Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-Report of the second family with B3GAT3 mutation and expansion of the phenotype

American Journal of Medical Genetics, Part A

Volumn 164, Issue 6, 2014, Pages 1580-1586

  Von Oettingen, Julia E ^a   Tan, Wen Hann ^a   Dauber, Andrew ^a,b  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b BROAD INSTITUTE OF MIT AND HARVARD   (United States)

Author keywords

B3GAT3; Larsen like syndrome; Linkeropathy; Proteoglycan disorder

Indexed keywords

AMBLYOPIA; ARTICLE; B3GAT3 GENE; B4GALT6 GENE; B4GALT7 GENE; BONE DYSPLASIA; BRAIN ATROPHY; CASE REPORT; CHILD; CLINICAL FEATURE; CONVERGENT STRABISMUS; DEVELOPMENTAL DISORDER; EXOME; FACE DYSMORPHIA; FAMILY HISTORY; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HOMOZYGOTE; HUMAN; HYPERMETROPIA; JOINT INSTABILITY; JOINT LAXITY; MALE; MULTIPLE MALFORMATION SYNDROME; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PIGEON THORAX; PRESCHOOL CHILD; PRIORITY JOURNAL; SHORT STATURE; SKIN DEFECT; TOOTH DISEASE; BIOSYNTHESIS; BONE; GENETICS; MUSCULOSKELETAL SYSTEM MALFORMATION; MUTATION; UNITED ARAB EMIRATES;

B3GAT3 PROTEIN, HUMAN; GALACTOSYLTRANSFERASE; GLUCURONOSYLTRANSFERASE; PROTEOGLYCAN; XYLOSYLPROTEIN 4-BETA-GALACTOSYLTRANSFERASE;

ABNORMALITIES, MULTIPLE; BONE AND BONES; BONE DISEASES, DEVELOPMENTAL; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; GALACTOSYLTRANSFERASES; GLUCURONOSYLTRANSFERASE; HUMANS; MALE; MUSCULOSKELETAL ABNORMALITIES; MUTATION; PHENOTYPE; PROTEOGLYCANS; UNITED ARAB EMIRATES;

EID: 84899959040     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36487     Document Type: Article

References (19)

1. Baasanjav S, Al-Gazali L, Hashiguchi T, Mizumoto S, Fischer B, Horn D, Seelow D, Ali BR, Aziz SAA, Langer R, Saleh AAH, Becker C, Nürnberg G, Cantagrel V, Gleeson JG, Gomez D, Michel J-B, Stricker S, Lindner TH, Nürnberg P, Sugahara K, Mundlos S, Hoffmann K. 2011. Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. Am J Hum Genet 89:15-27.
2. Bernfield M, Götte M, Park P. 1999. Functions of cell surface heparan sulfate proteoglycans. Annu Rev Biochem 68:729-777.
3. Bishop JR, Schuksz M, Esko JD. 2007. Heparan sulphate proteoglycans fine-tune mammalian physiology. Nature 446:1030-1037.
4. Esko JD, Selleck SB. 2002. Order out of chaos: Assembly of ligand binding sites in heparan sulfate. Annu Rev Biochem 71:435-471.
5. Faiyaz-Ul-Haque M, Zaidi SHE, Al-Ali M, Al-Mureikhi MS, Kennedy S, Al-Thani G, Tsui L-C, Teebi AS. 2004. A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type. Am J Med Genet 128A:39-45.
6. Guo MH, Stoler J, Lui J, Nilsson O, Bianchi DW, Hirschhorn JN, Dauber A. 2013. Redefining the progeroid form of Ehlers-Danlos syndrome: Report of the fourth patient with B4GALT7 deficiency and review of the literature. Am J Med Genet doi: 10.1002/ajmg.a.36128.
7. Häcker U, Nybakken K, Perrimon N. 2005. Heparan sulphate proteoglycans: The sweet side of development. Nat Rev Mol Cell Biol 6:530-541.
8. Haltiwanger RS, Lowe JB. 2004. Role of glycosylation in development. Annu Rev Biochem 73:491-537.
9. Kresse H, Rosthøj S, Quentin E, Hollmann J, Glössl J, Okada S, Tønnesen T. 1987. Glycosaminoglycan-free small proteoglycan core protein is secreted by fibroblasts from a patient with a syndrome resembling progeroid. Am J Hum Genet 41:436-453.
10. Malfait F, Kariminejad A, Van Damme T, Gauche C, Syx D, Merhi-Soussi F, Gulberti S, Symoens S, Vanhauwaert S, Willaert A, Bozorgmehr B, Kariminejad MH, Ebrahimiadib N, Hausser I, Huysseune A, Fournel-Gigleux S, De Paepe A. 2013. Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos syndrome-like connective tissue disorder. Am J Hum Genet pii: S0002-9297(13)00177-8. doi: 10.1016/j.ajhg.20.
11. Mizumoto S, Ikegawa S, Sugahara K. 2013. Human genetic disorders caused by mutations in genes encoding biosynthetic enzymes for sulfated glycosaminoglycans. J Biol Chem 288:10953-10961.
12. Nakajima M, Mizumoto S, Miyake N, Kogawa R, Iida A, Ito H, Kitoh H, Hirayama A, Mitsubuchi H, Miyazaki O, Kosaki R, Horikawa R, Lai A, Mendoza-Londono R, Dupuis L, Chitayat D, Howard A, Leal GF, Cavalcanti D, Tsurusaki Y, Saitsu H, Watanabe S, Lausch E, Unger S, Bonafé L, Ohashi H, Superti-Furga A, Matsumoto N, Sugahara K, Nishimura G, Ikegawa S. 2013. Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. Am J Hum Genet pii: S0002-9297(13)00164-X. doi: 10.1016/j.ajhg.20.
13. Perrimon N, Bernfield M. 2000. Specificities of heparan sulphate proteoglycans in developmental processes. Nature 404:725-728.
14. Presto J, Thuveson M, Carlsson P, Busse M, Wilén M, Eriksson I, Kusche-Gullberg M, Kjellén L. 2008. Heparan sulfate biosynthesis enzymes EXT1 and EXT2 affect NDST1 expression and heparan sulfate sulfation. Proc Natl Acad Sci U S A 105:4751-4756.
15. Quentin E, Gladen A, Roden L, Kresse H. 1990. A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: Galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndrome. Proc Natl Acad Sci U S A 87:1342-1346.
16. Rollins JD, Collins JS, Holden KR. 2010. United States head circumference growth reference charts: Birth to 21 years. J Pediatr 156:907-913.
17. Schwartz NB, Roden L. 1974. Biosynthesis of chondroitin sulfate. Purification of UDP-D-xylose: Core protein 1-D-xylotransferase by affinity chromatography. Carbohydr Res 56:717-724.
18. Sugahara K. 2003. Recent advances in the structural biology of chondroitin sulfate and dermatan sulfate. Curr Opin Struct Biol 13:612-620.
19. Sugahara K, Mikami T. 2007. Chondroitin/dermatan sulfate in the central nervous system. Curr Opin Struct Biol 17:536-545.