title: Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype.
abstract: In 2008, SLC29A3 has been implicated in a syndromic form of genodermatosis: H syndrome. The major features encountered in H syndrome are Hearing loss, Hyperglycaemia, Heart anomalies, Hypertrichosis, Hyperpigmentation, Hepatomegaly and Hypogonadism. More recently, SLC29A3 mutations have been described in families presenting syndromes associating generalized histiocytosis to systemic progressive features: severe camptodactyly, hearing loss, hypogonadism, hepatomegaly, heart defects and skin hyperpigmentation. We have identified a homozygous missense SLC29A3 mutation in a patient presenting with only a progressive sensorineural hearing impairment and a single cervical node (Rosai Dorfman). SLC29A3 mutations appear to be involved in a large phenotypic continuum which should prompt physicians to study this gene even in mild clinical presentations.
authors: Centre de référence des surdités génétiques, Trousseau Hospital, Paris, France.
authors: Laurence
authors: L
authors: Jonard
authors: Vincent
authors: V
authors: Couloigner
authors: Sébastien
authors: S
authors: Pierrot
authors: Malek
authors: M
authors: Louha
authors: Souad
authors: S
authors: Gherbi
authors: Françoise
authors: F
authors: Denoyelle
authors: Sandrine
authors: S
authors: Marlin
mesh_terms: D000293:Adolescent; D005260:Female; D005820:Genetic Testing; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000473:pathology; D015618:Histiocytosis, Sinus / Q000235:genetics / Q000473:pathology; D006720:Homozygote; D006801:Humans; D020125:Mutation, Missense; D033703:Nucleoside Transport Proteins / Q000235:genetics*; D010641:Phenotype
chemical_list: D033703:Nucleoside Transport Proteins; C501424:SLC29A3 protein, human