Hearing loss
Gene: MTAP
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#112250:Diaphyseal medullary stenosis with malignant fibrous histiocytoma[Presenile cataracts; OsteopeniaRadiolucency of the bones; Bony dysplasiaPathologic fractures of the long bonesOsteomyelitis leading to amputation due to slow healing fracturesPatchy sclerotic changes to the long bonesCoarse, sclerotic trabeculaeDiaphyseal cortical thickeningDiaphyseal medullary stenosisMetaphyseal striationsNecrosis in large tubular bone diaphysesNarrow medullary cavitiesMarrow necrosisMarrow infarctionsBowing of the lower extremities; Soft, thin skin (1 family)Easy bruising (1 family); Premature graying (1 family); Limb-girdle muscle weakness (2 families)Proximal muscle weaknessProximal and distal muscle atrophyDistal limb muscle weakness occurs laterMyopathic changes seen on EMG and muscle biopsy; Malignant fibrous histiocytoma (in about 35% of patients)OsteosarcomaFibrosarcoma; Serum alkaline phosphatase normal or mildly increasedSerum creatine kinase normal or mildly increased]
Publications
MTAP was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert