FAM20A mutations associated with enamel renal syndrome

Journal of Dental Research

Volumn 93, Issue 1, 2014, Pages 42-48

  Wang, S K ^a   Reid, B M ^a   Dugan, S L ^b   Roggenbuck, J A ^b   Read, L ^b   Aref, P ^c   Taheri, A P H ^d   Yeganeh, M Z ^e   Simmer, J P ^a   Hu, J C C ^a  

^a UNIVERSITY OF MICHIGAN   (United States)

^b CHILDREN S HOSPITALS AND CLINICS OF MINNESOTA   (United States)

^c ISLAMIC AZAD UNIVERSITY   (Iran)

^d TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^e SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

amelogenesis imperfecta; delayed eruption; enamel; gingival hyperplasia; nephrocalcinosis; tooth

Indexed keywords

EID: 84890757296     PISSN: 00220345     EISSN: 15440591     Source Type: Journal    
DOI: 10.1177/0022034513512653     Document Type: Article

References (13)

1. Cho SH, Seymen F, Lee KE, Lee SK, Kweon YS, Kim KJ, et al. Novel FAM20A mutations in hypoplastic amelogenesis imperfecta. Hum Mutat. 2012 ; 33: 91-94
2. Jaureguiberry G, De la Dure-Molla M, Parry D, Quentric M, Himmerkus N, Koike T, et al. Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations. Nephron Physiol. 2013 ; 122: 1-6
3. Koike T, Izumikawa T, Tamura J, Kitagawa H. FAM20B is a kinase that phosphorylates xylose in the glycosaminoglycan-protein linkage region. Biochem J. 2009 ; 421: 157-162
4. Lewin B Oxford, UK: Oxford University Press ; 1997 :
5. Lubinsky M, Angle C, Marsh PW, Witkop CJ. Syndrome of amelogenesis imperfecta, nephrocalcinosis, impaired renal concentration, and possible abnormality of calcium metabolism. Am J Med Genet. 1985 ; 20: 233-243
6. Nadanaka S, Zhou S, Kagiyama S, Shoji N, Sugahara K, Sugihara K, et al. EXTL2, a member of EXT family of tumor suppressors, controls glycosaminoglycan biosynthesis in a xylose kinase-dependent manner. J Biol Chem. 2013 ; 288: 9321-9333
7. O'Sullivan J, Bitu CC, Daly SB, Urquhart JE, Barron MJ, Bhaskar SS, et al. Whole-exome sequencing identifies FAM20A mutations as a cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome. Am J Hum Genet. 2011 ; 88: 616-620
8. Simpson MA, Hsu R, Keir LS, Hao J, Sivapalan G, Ernst LM, et al. Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development. Am J Hum Genet. 2007 ; 81: 906-912
9. Simpson MA, Scheuerle A, Hurst J, Patton MA, Stewart H, Crosby AH. Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia. Clin Genet. 2009 ; 75: 271-276
10. Tagliabracci VS, Engel JL, Wen J, Wiley SE, Worby CA, Kinch LN, et al. Secreted kinase phosphorylates extracellular proteins that regulate biomineralization. Science. 2012 ; 336: 1150-1153
11. Vogel P, Hansen GM, Read RW, Vance RB, Thiel M, Liu J, et al. Amelogenesis imperfecta and other biomineralization defects in Fam20a and Fam20c null mice. Vet Pathol. 2012 ; 49: 998-1017
12. Wang SK, Aref P, Hu Y, Milkovich RN, Simmer JP, El-Khateeb M, et al. FAM20A mutations can cause Enamel-Renal Syndrome (ERS). PLoS Genet. 2013a ; 9: e1003302
13. Wang SK, Samann AC, Hu JC, Simmer JP. FAM20C functions intracellularly within both ameloblasts and odontoblasts in vivo. J Bone Miner Res. 2013b ;: