Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis

Human Molecular Genetics

Volumn 21, Issue 22, 2012, Pages 4904-4909

  Campeau, Philippe M ^a   Lu, James T ^a   Sule, Gautam ^a   Jiang, Ming Ming ^a   Bae, Yangjin ^a   Madan, Simran ^a   Högler, Wolfgang ^a   Shaw, Nicholas J ^b   Mumm, Steven ^c,d   Gibbs, Richard A ^a   Whyte, Michael P ^c,d   Lee, Brendan H ^a,e  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^c SHRINERS HOSPITAL FOR CHILDREN   (United States)

^d WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; NUCLEOSIDE TRANSPORTER; SLC29A3 PROTEIN; UNCLASSIFIED DRUG;

ALBERS SCHOENBERG DISEASE; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BONE DEMINERALIZATION; CELL DIFFERENTIATION; CELL FUNCTION; CELL SURFACE; CHILD; CONTROLLED STUDY; DYSOSTEOSCLEROSIS; EXOME; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HETEROZYGOTE; HISTIOCYTOSIS; HOMOZYGOTE; HUMAN; HUMAN CELL; IN VIVO STUDY; LYMPHADENOPATHY; LYSOSOME; MISSENSE MUTATION; MONOCYTE; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; OSTEOCLAST; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; ANIMALS; CHILD, PRESCHOOL; CONSANGUINITY; EXOME; FEMALE; HUMANS; INFANT; MICE; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEOSIDE TRANSPORT PROTEINS; OSTEOPETROSIS; OSTEOSCLEROSIS; SEQUENCE ALIGNMENT;

MUS;

EID: 84868156596     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds326     Document Type: Article

References (26)

1. Whyte, M.P., Wenkert, D., McAlister, W.H., Novack, D.V., Nenninger, A.R., Zhang, X., Huskey, M. and Mumm, S. (2010) Dysosteosclerosis presents as an 'osteoclast-poor' form of osteopetrosis: comprehensive investigation of a 3-year-old girl and literature review. J. Bone Miner. Res., 25, 2527-2539.
2. Ellis, R.W. (1934) Osteopetrosis: (Section for the Study of Disease in Children). Proc. R. Soc. Med., 27, 1563-1571.
3. Spranger, J., Albrecht, C., Rohwedder, H.J. and Wiedemann, H.R. (1968) Dysosteosclerosis-a special form of generalized osteosclerosis. Fortschr. Geb. Rontgenstr. Nuklearmed., 109, 504-512.
4. Lemire, E.G. and Wiebe, S. (2008) Clinical and radiologic findings in an adult male with dysosteosclerosis. Am. J. Med. Genet. A, 146A, 474-478.
5. Pascual-Castroviejo, I., Casas-Fernandez, C., Lopez-Martin, V. and Martinez-Bermejo, A. (1977) X-linked dysosteosclerosis. Four familial cases. Eur. J. Pediatr., 126, 127-138.
6. Zhang, F., Whyte, M.P. and Wenkert, D. (2012) Dual-energy X-ray absorptiometry interpretation: a simple equation for height correction in preteenage children. J. Clin. Densitom., 15, 267-274.
7. Cliffe, S.T., Kramer, J.M., Hussain, K., Robben, J.H., de Jong, E.K., de Brouwer, A.P., Nibbeling, E., Kamsteeg, E.J., Wong, M., Prendiville, J. et al. (2009) SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway. Hum. Mol. Genet., 18, 2257-2265.
8. Molho-Pessach, V., Lerer, I., Abeliovich, D., Agha, Z., Abu Libdeh, A., Broshtilova, V., Elpeleg, O. and Zlotogorski, A. (2008) The H syndrome is caused by mutations in the nucleoside transporter hENT3. Am. J. Hum. Genet., 83, 529-534.
9. Spiegel, R., Cliffe, S.T., Buckley, M.F., Crow, Y.J., Urquhart, J., Horovitz, Y., Tenenbaum-Rakover, Y., Newman, W.G., Donnai, D. and Shalev, S.A. (2010) Expanding the clinical spectrum of SLC29A3 gene defects. Eur. J. Med. Genet., 53, 309-313.
10. Jonard, L., Couloigner, V., Pierrot, S., Louha, M., Gherbi, S., Denoyelle, F. and Marlin, S. (2011) Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype. Eur. J. Med. Genet., 55, 56-58.
11. Kang, N., Jun, A.H., Bhutia, Y.D., Kannan, N., Unadkat, J.D. and Govindarajan, R. (2010) Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability. J. Biol. Chem., 285, 28343-28352.
12. Farooq, M., Moustafa, R.M., Fujimoto, A., Fujikawa, H., Abbas, O., Kibbi, A.G., Kurban, M. and Shimomura, Y. (2012) Identification of two novel mutations in SLC29A3 encoding an equilibrative nucleoside transporter (hENT3) in two distinct Syrian families with H syndrome: expression studies of SLC29A3 (hENT3) in human skin. Dermatology, 224, 277-284.
13. Uniprot_Consortium. (2012) Reorganizing the protein space at the Universal Protein Resource (UniProt). Nucleic Acids Res., 40, D71-75.
14. Seelow, D., Schwarz, J.M. and Schuelke, M. (2008) GeneDistiller- distilling candidate genes from linkage intervals. PLoS One, 3, e3874.
15. Hsu, C.L., Lin, W., Seshasayee, D., Chen, Y.H., Ding, X., Lin, Z., Suto, E., Huang, Z., Lee, W.P., Park, H. et al. (2012) Equilibrative nucleoside transporter 3 deficiency perturbs lysosome function and macrophage homeostasis. Science, 335, 89-92.
16. Li, H. and Durbin, R. (2009) Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics, 25, 1754-1760.
17. McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A., Garimella, K., Altshuler, D., Gabriel, S., Daly, M. et al. (2010) The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res., 20, 1297-1303.
18. DePristo, M.A., Banks, E., Poplin, R., Garimella, K.V., Maguire, J.R., Hartl, C., Philippakis, A.A., del Angel, G., Rivas, M.A., Hanna, M. et al. (2011) A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat. Genet., 43, 491-498.
19. Li, H., Handsaker, B., Wysoker, A., Fennell, T., Ruan, J., Homer, N., Marth, G., Abecasis, G. and Durbin, R. (2009) The Sequence Alignment/Map format and SAMtools. Bioinformatics, 25, 2078-2079.
20. Havlak, P., Chen, R., Durbin, K.J., Egan, A., Ren, Y., Song, X.Z., Weinstock, G.M. and Gibbs, R.A. (2004) The Atlas genome assembly system. Genome Res., 14, 721-732.
21. Wang, K., Li, M. and Hakonarson, H. (2010) ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res., 38, e164.
22. Liu, X., Jian, X. and Boerwinkle, E. (2011) dbNSFP: a lightweight database of human non-synonymous SNPs and their functional predictions. Hum. Mutat., 32, 894-899.
23. Sabokbar, A. and Athanasou, N.S. (2003) Generating human osteoclasts from peripheral blood. Methods Mol. Med., 80, 101-111.
24. Bolze, A., Abhyankar, A., Grant, A.V., Patel, B., Yadav, R., Byun, M., Caillez, D., Emile, J.F., Pastor-Anglada, M., Abel, L. et al. (2012) A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant. PLoS One, 7, e29708.
25. Roy, C., Maroteaux, P., Kremp, L., Courtecuisse, V. and Alagille, D. (1968) A new bone syndrome with skin anomalies and neurologic disorders. Arch. Fr. Pediatr., 25, 893-905.
26. Sener, R.N., Yalman, O., Cetingul, N., Tutuncuoglu, S., Kavakli, K. and Ustun, E.E. (1997) Dysosteosclerosis: clinicoradiologic findings including brain MRI. Comput. Med. Imaging Graph., 21, 355-357.