Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Equilibrativer Nucleosid-Transporter 3

Das SLC29A3-Gen kodiert einen Nucleosid-Transporter. Mutationen führen zu einer autosomal rezessiven Histiozytose mit vielen verschiedenen klinischen Erscheinungsformen, die als H-Syndrom zusammengefasst werden.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

H-Syndrom
SLC29A3

Referenzen:

1.

Moynihan LM et. al. (1998) Autozygosity mapping, to chromosome 11q25, of a rare autosomal recessive syndrome causing histiocytosis, joint contractures, and sensorineural deafness.

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2.

Hyde RJ et al. () The ENT family of eukaryote nucleoside and nucleobase transporters: recent advances in the investigation of structure/function relationships and the identification of novel isoforms.

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3.

Baldwin SA et al. (2005) Functional characterization of novel human and mouse equilibrative nucleoside transporters (hENT3 and mENT3) located in intracellular membranes.

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4.

Kismet E et. al. (2005) Sinus histiocytosis with massive lymphadenopathy in three brothers.

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5.

Rossbach HC et. al. (2006) Faisalabad histiocytosis mimics Rosai-Dorfman disease: brothers with lymphadenopathy, intrauterine fractures, short stature, and sensorineural deafness.

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6.

Marina S et. al. () POEMS in childhood.

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7.

Prendiville J et. al. () Pigmented hypertrichotic dermatosis and insulin dependent diabetes: manifestations of a unique genetic disorder?

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8.

Molho-Pessach V et. al. (2008) The H syndrome is caused by mutations in the nucleoside transporter hENT3.

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9.

de Pontual L et. al. (2008) Rhinoscleroma: a French national retrospective study of epidemiological and clinical features.

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10.

Hussain K et. al. (2009) Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: confirmation of a syndrome.

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11.

Cliffe ST et. al. (2009) SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.

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12.

Molho-Pessach V et. al. (2010) The H syndrome: two novel mutations affecting the same amino acid residue of hENT3.

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13.

Morgan NV et. al. (2010) Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease.

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14.

Kang N et al. (2010) Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability.

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15.

Spiegel R et. al. () Expanding the clinical spectrum of SLC29A3 gene defects.

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16.

Avitan-Hersh E et. al. (2011) A case of H syndrome showing immunophenotye similarities to Rosai-Dorfman disease.

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17.

Jonard L et. al. (2012) Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype.

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18.

Hsu CL et al. (2012) Equilibrative nucleoside transporter 3 deficiency perturbs lysosome function and macrophage homeostasis.

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19.

Bolze A et. al. (2012) A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant.

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20.

Farooq M et. al. (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.

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21.

Campeau PM et. al. (2012) Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis.

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22.

Melki I et al. (2013) Mutation in the SLC29A3 gene: a new cause of a monogenic, autoinflammatory condition.

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23.
Update: 8. Mai 2019