Monogenic hearing loss
Gene: POLD1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#612591:{Colorectal cancer, susceptibility to, 10}[Colorectal adenomasColorectal polypsColorectal carcinoma; Endometrial carcinoma; Colorectal carcinomaEndometrial carcinoma]; #615381:Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome[Normal birth weight; Mandibular hypoplasiaProgeroid appearance; Sensorineural deafness; Prominent eyes; Beaked nose; Small mouth; Crowded teeth; Poor breast development (in women); HepatomegalyHepatic steatosis; Cryptorchidism; OsteoporosisJoint contractures; KyphosisScoliosis; Tight skinScleroderma-like changesTelangiectasesSkin atrophy; LipodystrophyLoss of subcutaneous fat, particularly affecting the limbsLoss of subcutaneous fat, generalizedIncreased visceral fat; High-pitched voice; Insulin resistanceDiabetes mellitusHypogonadism (in males); Abnormal liver function testsHypertriglyceridemia]
Publications
Phenotypes for gene: POLD1 were changed from {Colorectal cancer, susceptibility to, 10}, 612591Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome,615381; Colorectalcancer,susceptibilityto,10},612591Mandibularhypoplasia,deafness,progeroidfeatures,andlipodystrophysyndrome,615381 to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381
POLD1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen