Early-onset Sensorineural Hearing Loss Is A Prominent Feature Of H ...

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Abstract

This case report describes two patients with H syndrome, a multisystemic autosomal recessive disorder, caused by mutations in the SLC29A3 gene. It is characterized by cutaneous hyperpigmentation, camptodactyly or flexion contractures and other features, among them hearing loss. The two patients had hearing loss as their presenting symptom, and had mutations in SLC29A3, one of them a novel mutation. The aim of this paper is to increase awareness to this recently described disorder, and to emphasize that H syndrome should be included in the differential diagnosis of congenital or acquired syndromic hearing loss in children.

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  • Research Support, Non-U.S. Gov't Actions
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MeSH terms

  • Abnormalities, Multiple / genetics Actions
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  • Adolescent Actions
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  • Female Actions
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  • Hearing Loss, Sensorineural / genetics* Actions
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  • Humans Actions
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  • Hyperpigmentation / genetics Actions
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  • Male Actions
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  • Mutation* Actions
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  • Nucleoside Transport Proteins / genetics* Actions
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  • Syndrome Actions
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Substances

  • Nucleoside Transport Proteins Actions
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  • SLC29A3 protein, human Actions
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