Monogenic hearing loss

Gene: SLC29A3

Red List (low evidence)

Comment on list classification: Demoted from amber to red after expert review. Mutations in this gene have been associated with histocytosis-lymphadenopathy plus syndrome, and patients may have sensorineural deafness/hearing loss included as part of their symptoms.

Created: 23 Feb 2016, 12:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#602782:Histiocytosis-lymphadenopathy plus syndrome[Short stature; Submandibular lymphadenopathy; Hearing loss, sensorineural; Histiocytic deposits in eyelidsEyelid infiltratesOrbital mass due to histiocytosisExophthalmosEpiscleritis; Nasal mass due to histiocytosis; Retropharyngeal lymphadenopathy; Cervical lymphadenopathy; Atrial septal defect (rare)Ventricular septal defect (rare)Septal thickening (rare)Mitral valve prolapse (rare)Cardiomegaly (rare)Bicommissural aortic valve (rare); Inguinal lymphadenopathy, bilateral, extending across suprapubic area; Hepatomegaly; Diabetes mellitus, insulin-dependentPancreatic exocrine deficiencyPancreatomegaly (rare)Pancreatic hypoplasia, mild (rare); Splenomegaly; Intrauterine fractures of long bones and clavicles; Contractures of elbows; Contractures of fingersCamptodactylyClinodactyly; Contractures of toesHallux valgus; Retroperitoneal fibrosis (rare); Fever; Diabetes mellitus, insulin-dependentHypergonadotropic hypogonadismHypogonadotropic hypogonadism (rare)Growth hormone deficiency; Nonclonal myeloproliferation; Hyperglobulinemia, polyclonal (in some patients)Lymphadenopathy, generalized (in some patients); Elevated inflammatory markers]

Publications

• PMID:15701636
• 16118898
• 16155931
• 16650224
• 17461801
• 18940313
• 18947330
• 19175903
• 19889517
• 20140240
• 20595384
• 20619369
• 21178579
• 21888995
• 22174130
• 22238637
• 22653152
• 22875837
• 23530176
• 9545394