Monogenic hearing loss
Gene: ERCC2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#278730:Xeroderma pigmentosum, group D[Skin photosensitivity; Early onset skin cancer (basal cell, squamous cell and malignant melanoma); Early freckle-like lesions in exposed areas; Poikiloderma; Increased/decreased skin pigment; Skin atrophy; Telangiectasia; Actinic keratoses; Angiomas; Keratoacanthomas; Photophobia; Conjunctivitis; Keratitis; Ectropion; Entropion; Mental deterioration; Low intelligence; Microcephaly; Sensorineural deafness; Hyporeflexia; Spasticity; Ataxia; Choreoathetosis; Later onset of neurologic features; Xerodermic idiocy of de sanctis and cacchione [de sanctis-cacchione syndrome] occurs most often in Group D; Linkage with trichothiodystrophy including abnormal hair shaft, ichthyosis, hypogenitalism, short stature, and peculiar facies; Defective DNA repair after ultraviolet radiation damage]; #601675:Trichothiodystrophy 1, photosensitive[Brittle hair; Brittle nails; Ichthyotic skin; Nonbullous ichthyosiform erythroderma; Collodion baby; Photosensitivity; Erythroderma; Lack of subcutaneous fatty tissue; Physical retardation; Low birth weight; Short stature; Mental retardation; Hypogammaglobulinemia; Intestinal obstruction; Absent breast tissue; Hypogonadism; Aged appearance; Cataract; Microcephaly; Asthma; Joint contractures; Recurrent infections; Reduced cysteine-rich hair and nail matrix proteins; Nucleotide excision-repair (NER) defect]; #610756:Cerebrooculofacioskeletal syndrome 2[<omim version=1.0><clinicalSynopsisList>]
Publications
ERCC2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert