Monogenic hearing loss

Gene: FKBP14

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#614557:Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss[Retrogenia in infancy (in some patients); Hearing loss, high-frequency sensorineural; Myopia (in most patients)Bluish sclerae in infancy (rare); Cleft soft palate (in some patients); Insufficiency of tricuspid valve (in some patients)Insufficiency of mitral valve (rare); Patent ductus arteriosus (in some patients)Aortic rupture (rare); Restrictive ventilation disorder due to severe scoliosis (in some patients); Umbilical hernia (in some patients)Redundant umbilical skin (in some patients)Inguinal hernia (in some patients); Inguinal hernia (in some patients); Bladder diverticulum (in some patients); Hypermobility of large and small joints (Beighton score ranging from 6/9 to 9/9)Dislocations, recurrent (rare)Osteopenia, mild to moderateFractures (rare); Kyphoscoliosis, progressive; Hypermobility of large joints; Hypermobility of small joints; Hypermobility of small jointsPes planusClub foot (in some patients); Hyperelastic skinSoft skinPlantar softnessFollicular hyperkeratosisEasy bruising (in some patients)Hypertrophic scarring (rare); Endoplasmic reticulum cisterns dilated and filled with flocculent material in skin fibroblastsCollagen fibrils normal in shape and diameter; Severe muscle hypotonia at birthPoor head control in infancyMuscular weakness, improving in infancy (Medical Research Council muscle score of 3 to 4)Muscular atrophyMyopathy, mild to severeIncreased variation in muscle fiber diameterProliferation of fatty tissue in muscle (in some patients)Muscle fiber atrophy, profound (rare); Delayed motor developmentWalking independently at 2.5 years to 4 years of age; Decreased movements in utero (in some patients); Normal pyridinoline excretion in urine]

Publications

• PMID:22265013
• 24773188