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

Pediatric Diabetes

Volumn 14, Issue 6, 2013, Pages 466-472

  Elbarbary, Nancy S ^a   Tjora, Erling ^b,c   Molnes, Janne ^b,c   Lie, Benedicte A ^d   Habib, Mohammad A ^a   Salem, Mona A ^a   Njølstad, Pål Rasmus ^b,c  

^a AIN SHAMS UNIVERSITY   (Egypt)

^b HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^c UNIVERSITY OF BERGEN   (Norway)

^d UNIVERSITY OF OSLO   (Norway)

Author keywords

Diabetes; Gene; Mutation; Syndrome

Indexed keywords

ANTIDIABETIC AGENT; C REACTIVE PROTEIN; GLUCOSE TRANSPORTER; HEMOGLOBIN A1C; INSULIN; SLC 29A3; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BODY DYSMORPHIC DISORDER; CASE REPORT; CLINICAL EXAMINATION; CONSANGUINEOUS MARRIAGE; DNA SEQUENCE; DRUG MEGADOSE; EGYPT; ERYTHROCYTE SEDIMENTATION RATE; FAISALABAD HISTIOCYTOSIS; FEMALE; GENE MUTATION; GENITAL SYSTEM; GENOTYPE; HEART LEFT VENTRICLE HYPERTROPHY; HISTIOCYTOSIS; HOMOZYGOTE; HUMAN; HYPOGONADISM; HYPOTHESIS; INSULIN DEPENDENT DIABETES MELLITUS; LEG; LYMPHADENOPATHY; MALE; PERCEPTION DEAFNESS; PHENOTYPE; PIGMENTED HYPERTRICHOTIC DERMATOSIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SHORT STATURE; SIBLING; SKIN DISEASE; SYNDROME H; TRUNK;

DIABETES; GENE; MUTATION; SYNDROME;

ADOLESCENT; ADULT; CONSANGUINITY; CONTRACTURE; DIABETES MELLITUS, TYPE 1; FEMALE; GENETIC DISEASES, INBORN; HEARING LOSS, SENSORINEURAL; HEPATOMEGALY; HISTIOCYTOSIS; HOMOZYGOTE; HUMANS; HYPERPIGMENTATION; HYPERTROPHY, LEFT VENTRICULAR; LYMPHATIC DISEASES; MALE; MUTATION; NUCLEOSIDE TRANSPORT PROTEINS; SIBLINGS; SPLENOMEGALY; SYNDROME; YOUNG ADULT;

EID: 84882587835     PISSN: 1399543X     EISSN: 13995448     Source Type: Journal    
DOI: 10.1111/j.1399-5448.2012.00925.x     Document Type: Article

References (28)

1. Molven A, Njolstad PR. Role of molecular genetics in transforming diagnosis of diabetes mellitus. Expert Rev Mol Diagn 2011: 11: 313-320.
2. Baldwin SA, Beal PR, Yao SY, King AE, Cass CE, Young JD. The equilibrative nucleoside transporter family, SLC29. Pflugers Arch 2004: 447: 735-743.
3. Baldwin SA, Yao SY, Hyde RJ et al. Functional characterization of novel human and mouse equilibrative nucleoside transporters (hENT3 and mENT3) located in intracellular membranes. J Biol Chem 2005: 280: 15880-15887.
4. Edghill EL, Hameed S, Verge CF et al. Mutations in the SLC29A3 gene are not a common cause of isolated autoantibody negative type 1 diabetes. JOP 2009: 10: 457-458.
5. Govindarajan R, Leung GP, Zhou M, Tse CM, Wang J, Unadkat JD. Facilitated mitochondrial import of antiviral and anticancer nucleoside drugs by human equilibrative nucleoside transporter-3. Am J Physiol Gastrointest Liver Physiol 2009: 296: G910-G922.
6. Cliffe ST, Kramer JM, Hussain K 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. Molho-Pessach V, Agha Z, Aamar S 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.
8. Morgan NV, Morris MR, Cangul H 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. Laurence J, Vincent C, Sebastien P 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 2011: 55: 56-58.
10. Bolze A, Abhyankar A, Grant AV 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. Sayer DC, Whidborne R, De Santis D, Rozemuller EH, Christiansen FT, Tilanus MG. A multicenter international evaluation of single-tube amplification protocols for sequencing-based typing of HLA-DRB1 and HLA-DRB3, 4, 5. Tissue Antigens 2004: 63: 412-423.
12. Hussain K, Padidela R, Kapoor RR et al. Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: confirmation of a syndrome. Pediatr Diabetes 2009: 10: 193-197.
13. Molho-Pessach V, Lerer I, Abeliovich D et al. The H syndrome is caused by mutations in the nucleoside transporter hENT3. Am J Hum Genet 2008: 83: 529-534.
14. El-Darouti MA, Marzouk SA, Abdel-Halim MR. Muckle-Wells syndrome: report of six cases with hyperpigmented sclerodermoid skin lesions. Int J Dermatol 2006: 45: 239-244.
15. El-Khateeb EA, The H. syndrome. Pediatr Dermatol 2010: 27: 65-68.
16. Spiegel R, Cliffe ST, Buckley MF et al. Expanding the clinical spectrum of SLC29A3 gene defects. Eur J Med Genet 2010: 53: 309-313.
17. Prendiville J, Rogers M, Kan A et al. Pigmented hypertrichotic dermatosis and insulin dependent diabetes: manifestations of a unique genetic disorder? Pediatr Dermatol 2007: 24: 101-107.
18. Broshtilova V, Ramot Y, Molho-Pessach V, Zlotogorski A. Diabetes mellitus may be the earliest and sole manifestation of the H syndrome. Diabet Med 2009: 26: 1179-1180.
19. Priya TP, 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.
20. Ramot Y, Sayama K, Sheffer R et al. Early-onset sensorineural hearing loss is a prominent feature of H syndrome. Int J Pediatr Otorhinolaryngol 2010: 74: 825-827.
21. Avitan-Hersh E, Mandel H, Indelman M, Bar-Joseph G, Zlotogorski A, Bergman R. A case of H syndrome showing immunophenotye similarities to Rosai-Dorfman disease. Am J Dermatopathol 2011: 33: 47-51.
22. Molho-Pessach V, Suarez J, Perrin C et al. The H syndrome: two novel mutations affecting the same amino acid residue of hENT3. J Dermatol Sci 2010: 57: 59-61.
23. Farooq M, Moustafa RM, Fujimoto A et al. 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 2012: 224: 277-284.
24. Rossbach HC, 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.
25. Moynihan LM, Bundey SE, Heath D 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.
26. Kismet E, Koseoglu V, Atay AA, Deveci S, Demirkaya E, Tuncer K. Sinus histiocytosis with massive lymphadenopathy in three brothers. Pediatr Int 2005: 47: 473-476.
27. Kang N, Jun AH, Bhutia YD, Kannan N, Unadkat JD, Govindarajan R. Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability. J Biol Chem 2010: 285: 28343-28352.
28. Rodriguez-Viciana P, McCormick F. Characterization of interactions between ras family GTPases and their effectors. Methods Enzymol 2006: 407: 187-194.