Compound heterozygous SLC29A3 mutation causes H syndrome in a Moroccan patient: A case report

Molho-Pessach, 2008, The H syndrome is caused by mutations in the nucleoside transporter hENT3, Am J Hum Genet, 83, 529, 10.1016/j.ajhg.2008.09.013 Young, 2008, Human equilibrative nucleoside transporter (ENT) family of nucleoside and nucleobase transporter proteins, Xenobiotica, 38, 995, 10.1080/00498250801927427 Baldwin, 2004, The equilibrative nucleoside transporter family, SLC29, Pflugers Archiv, 447, 735, 10.1007/s00424-003-1103-2 Baldwin, 2005, Functional characterization of novel human and mouse equilibrative nucleoside transporters (hENT3 and mENT3) located in intracellular membranes, J Biol Chem, 280, 15880, 10.1074/jbc.M414337200 Govindarajan, 2009, Facilitated mitochondrial import of antiviral and anticancer nucleoside drugs by human equilibrative nucleoside transporter-3, Am J Physiol Gastrointest Liver Physiol, 296, G910, 10.1152/ajpgi.90672.2008 Grimberg, 1898, A simple and efficient non-organic procedure for the isolation of genomic DNA from blood, Nucleic Acids Res, 17, 8390, 10.1093/nar/17.20.8390 de Jesus, 2013, SLC29A3 mutation in a patient with syndromic diabetes with features of pigmented hypertrichotic dermatosis with insulin-dependent diabetes, H syndrome and Faisalabad histiocytosis, Diabetes Metab, 39, 281, 10.1016/j.diabet.2013.03.007 Elbarbary, 2013, An Egyptian family with H syndrome due to a novel mutation in SLC29A3 illustrating overlapping features with pigmented hypertrichotic dermatosis with insulin-dependent diabetes and Faisalabad histiocytosis, Pediatr Diabetes, 14, 466, 10.1111/j.1399-5448.2012.00925.x Morgan, 2010, Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease, PLoS Genet, 6, e1000833, 10.1371/journal.pgen.1000833 Moynihan, 1998, Autozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafness, Am J Hum Genet, 62, 1123, 10.1086/301824 Bolze, 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, 10.1371/journal.pone.0029708 Huber-Ruano, 2012, Functional outcome of a novel SLC29A3 mutation identified in a patient with H syndrome, Biochem Biophys Res Commun, 428, 532, 10.1016/j.bbrc.2012.09.143 Cliffe, 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, 10.1093/hmg/ddp161