Methods for assessing hearing loss in human loss in human and in animal are reviewed with special reference to the use of brainstem auditory evoked potentials (BSEP).
In humans, loss-of-function mutations of TRPML1 cause type IV mucolipidosis (ML-IV), a lysosomal storage disease (LSD).
In humans, loss of activity of a lysosomal enzyme leads to an inherited metabolic defect known as a lysosomal storage disorder.
In humans, loss of function mutations in COL18A1 cause Knobloch syndrome (OMIM 267750).
In humans, loss of HCRT neurons is associated with the sleep disorder narcolepsy and inappropriate triggering of REM sleep [1], [2].
In humans, loss of function of the CrT leads to intellectual impairment, loss of language, and autistic-like behavioral abnormalities, and no treatment is available [3], [4], [6], [7], [9], [10], [13].
In humans, loss of one copy of the ATP2A2 gene causes Darier disease (DD), an acantholytic skin disease [ 1, 2].
Also in humans loss-of-function mutations in Zfp57 cause hypomethylation at several ICRs, ultimately resulting in transient neo-natal diabetes.
In humans, loss of the TSC protein results in a disorder characterized clinically by the growth of benign tumors in multiple organs, due to overactivation of mTOR inhibition.
In humans, loss of a copy of the sex determinant DMRT1 can lead to sex reversal in which a genetically male individual adopts a female phenotype [ 25].
