SLC29A3 mutation in a patient with syndromic diabetes with features of pigmented hypertrichotic dermatosis with insulin-dependent diabetes, H syndrome and Faisalabad histiocytosis

Diabetes and Metabolism

Volumn 39, Issue 3, 2013, Pages 281-285

  De Jesus, J ^a,b   Imane, Z ^c   Senee V ^a,b   Romero, S ^a,b   Guillausseau, P J ^a,b,d   Balafrej, A ^c   Julier, C ^a,b  

^a INSERM   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c Children Hospital   (Morocco)

^d HÔPITAL LARIBOISIÈRE   (France)

Author keywords

Diabetes; Diagnosis; Genetics; Monogenic; Syndrome

Indexed keywords

C PEPTIDE; C REACTIVE PROTEIN; CHELATING AGENT; CYCLOPHOSPHAMIDE; FERRITIN; GENOMIC DNA; HEMOGLOBIN; HEMOGLOBIN A1C; METHYLPREDNISOLONE; PREDNISONE; PROTEIN; PROTEIN SLC 29A3; UNCLASSIFIED DRUG;

ADULT; ANEMIA; ANKLE ARTHRITIS; ARTHRITIS; ARTHROGRYPOSIS; ARTICLE; BLOOD TRANSFUSION; BONE MARROW BIOPSY; CARDIOMEGALY; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL DEAFNESS; DNA SEQUENCE; ERYTHROBLASTOPENIA; ERYTHROCYTE SEDIMENTATION RATE; EXON; FACE DYSMORPHIA; FAISALABAD HISTIOCYTOSIS; FEMALE; FEVER; FOLLOW UP; GENE MUTATION; HEPATOSPLENOMEGALY; HISTIOCYTOSIS; HOMOZYGOTE; HUMAN; HYPERPIGMENTATION; INSULIN DEPENDENT DIABETES MELLITUS; LUNG TUBERCULOSIS; MEDIASTINUM MASS; METABOLIC REGULATION; PIGMENTED HYPERTRICHOTIC DERMATITIS WITH INSULIN DEPENDENT DIABETES; PROTEIN ANALYSIS; SHORT STATURE; SKIN BIOPSY; SKIN DISEASE; SYNDROME H; THORACOTOMY; THORAX RADIOGRAPHY; THROMBOCYTOSIS; TUBERCULOUS PERICARDITIS;

ADOLESCENT; CHILD; CONTRACTURE; DIABETES MELLITUS, TYPE 1; DNA MUTATIONAL ANALYSIS; FEMALE; HEARING LOSS, SENSORINEURAL; HISTIOCYTOSIS; HUMANS; MUTATION; NUCLEOSIDE TRANSPORT PROTEINS; SYNDROME;

EID: 84878755900     PISSN: 12623636     EISSN: 18781780     Source Type: Journal    
DOI: 10.1016/j.diabet.2013.03.007     Document Type: Article

References (15)

1. Karges B., Meissner T., Icks A., Kapellen T., Holl R.W. Management of diabetes mellitus in infants. Nat Rev Endocrinol 2011, 8:201-211.
2. Holm P., Julier C., Kockum I., Senée V., Blanc H., et al. A genome-wide scan for type 1 diabetes susceptibility genes in Scandinavian families. Identification of new loci with evidence of interactions. Am J Hum Genet 2001, 69:1301-1313. European Consortium for IDDM Genome Studies Consortium.
3. Elbarbary N.S., Tjora E., Molnes J., Lie B.A., Habib M.A., Salem M.A., et al. An Egyptian family with H syndrome due to a novel mutation in SLC29A3illustrating overlapping features with pigmented hypertrichotic dermatosis with insulin-dependent diabetes and Faisalabad histiocytosis. Pediatr Diabetes 2012, [Epub ahead of print].
4. Rossbach H.C., Dalence C., Wynn T., Tebbi C. Faisalabad histiocytosis mimics Rosai-Dorfman disease: brothers with lymphadenopathy, intrauterine fractures, short stature, and sensorineural deafness. Pediatr Blood Cancer 2006, 47:629-632.
5. Prendiville J., Rogers M., Kan A., de Castro F., Wong M., Junker A., et al. Pigmented hypertrichotic dermatosis and insulin dependent diabetes: manifestations of a unique genetic disorder?. Pediatr Dermatol 2007, 24:101-107.
6. Cliffe S.T., Kramer J.M., Hussain K., Robben J.H., de Jong E.K., de Brouwer A.P., et al. SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway. Hum Mol Genet 2009, 18:2257-2265.
7. Kismet E., Köseoǧlu V., Atay A.A., Deveci S., Demirkaya E., Tuncer K. Sinus histiocytosis with massive lymphadenopathy in three brothers. Pediatr Int 2005, 47:473-476.
8. Morgan N.V., Morris M.R., Cangul H., Gleeson D., Straatman-Iwanowska A., Davies N., et al. Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease. PLoS Genet 2010, 6:e1000833.
9. Moynihan L.M., Bundey S.E., Heath D., Jones E.L., McHale D.P., Mueller R.F., et al. Autozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafness. Am J Hum Genet 1998, 62:1123-1128.
10. Bolze A., Abhyankar A., Grant A.V., Patel B., Yadav R., Byun M., et al. A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant. PLoS One 2012, 7:e29708.
11. Jonard L., Couloigner V., Pierrot S., Louha M., Gherbi S., Denoyelle F., et al. Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype. Eur J Med Genet 2012, 55:56-58.
12. Campeau P.M., Lu J.T., Sule G., Jiang M.M., Bae Y., Madan S., et al. Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis. Hum Mol Genet 2012, 21:4904-4909.
13. Govindarajan R., Leung G.P.H., Zhou M., Tse C.M., Wang J., Unadkat J.D. Facilitated mitochondrial import of antiviral and anticancer nucleoside drugs by human equilibrative nucleoside transporter-3. Gastrointest Liver Physiol 2009, 296:G910-G922.
14. Molho-Pessach V., Agha Z., Aamar S., Glaser B., Doviner V., Hiller N., et al. The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations. J Am Acad Dermatol 2008, 59:79-85.
15. Priya T.P., Philip N., Molho-Pessach V., Busa T., Dalal A., Zlotogorski A. H syndrome: novel and recurrent mutations in SLC29A3. Br J Dermatol 2010, 162:1132-1134.