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Mutation in the SLC29A3 gene: a new cause of a monogenic, autoinflammatory condition.
Mutation in the SLC29A3 gene: a new cause of a monogenic, autoinflammatory condition.
- Source :
-
Pediatrics [Pediatrics] 2013 Apr; Vol. 131 (4), pp. e1308-13. Date of Electronic Publication: 2013 Mar 25. - Publication Year :
- 2013
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Abstract
- Germline mutations in the SLC29A3 gene result in a range of recessive, clinically related syndromes: H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome, Faisalabad histiocytosis, and sinus histiocytosis with massive lymphadenopathy. The main symptoms of these diseases are hyperpigmentation with hypertrichosis, sensorineural deafness, diabetes, short stature, uveitis, and Rosai-Dorfman like histiocytosis. Here, we report the case of an 11-month-old boy with early-onset, recurrent episodes of unprovoked fever lasting 7 to 10 days and associated with pericardial effusion, abdominal pain, diarrhea, and inflammation. Physical examination revealed hyperpigmentation with hypertrichosis, dysmorphic features, and spleen and liver enlargement. Failure to thrive, sensorineural deafness, retarded psychomotor development, and a Rosai-Dorfman like cheek lesion developed subsequently. The febrile episodes did not respond to tumor necrosis factor α antagonists and interleukin-1. Sequencing of the SLC29A3 gene revealed a homozygous missense mutation c.1088G>A (p.Arg363Gln). These observations suggest that a newly identified mutation in the SLC29A3 gene may be associated with an autoinflammatory disorder. Genetic defects in SLC29A3 should be considered in patients with autoinflammatory manifestations, recurrent febrile attacks, and 1 or more of the symptoms found in the broad spectrum of SLC29A3-related disorders (especially hyperpigmentation with hypertrichosis).
- Subjects :
- Genetic Markers
Hereditary Autoinflammatory Diseases complications
Hereditary Autoinflammatory Diseases diagnosis
Humans
Hyperpigmentation etiology
Hyperpigmentation genetics
Hypertrichosis etiology
Hypertrichosis genetics
Infant
Male
Hereditary Autoinflammatory Diseases genetics
Homozygote
Mutation, Missense
Nucleoside Transport Proteins genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1098-4275
- Volume :
- 131
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Pediatrics
- Publication Type :
- Academic Journal
- Accession number :
- 23530176
- Full Text :
- https://doi.org/10.1542/peds.2012-2255