Monogenic hearing loss

Gene: ERCC4

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#278760:Xeroderma pigmentosum, type F/Cockayne syndrome[Short stature (in some patients); Low weight (in some patients); Microcephaly (in some patients); Hearing impairment (in some patients); Deep-set eyes (in some patients)Astigmatism (in some patients)Nystagmus (in some patients); Joint contractures (in some patients); Scoliosis (in some patients); Skin photosensitivityNumerous pigmented frecklesSeborrheic keratosis-like papulesRare skin cancersPlantar wartsHyperpigmentation; Learning disabilities (in some patients)Mental retardation (in some patients)Ataxia (in some patients)Tremor (in some patients)Dementia (in some patients)Brain atrophy (in some patients); Skin cancer susceptibility; Patient cells show defective transcription-coupled and global genome nucleotide excision repair (NER)]; #610965:?XFE progeroid syndrome[<omim version=1.0><clinicalSynopsisList>]; #615272:Fanconi anemia, complementation group Q[Short stature; Growth retardation; Microcephaly; Low-set ears; Biliary atresia; Esophageal atresia; Absent thumbs; Bone marrow failure; Patient cells show increased chromosome breakage]

Publications

• PMID:10320375
• 11511374
• 17183314
• 21612988
• 23623386
• 23623389
• 3372781
• 8041709
• 8332082
• 8797827
• 8887684
• 9579555