TBC1D24

At least 10 mutations in the TBC1D24 gene have been identified in people with DOORS syndrome, a disorder involving multiple abnormalities that are present from birth (congenital). "DOORS" is an abbreviation for the major features of the disorder including deafness; short or absent nails (onychodystrophy); short fingers and toes (osteodystrophy); developmental delay and intellectual disability (previously called mental retardation); and seizures. Some people with DOORS syndrome do not have all of these features.

Most of the TBC1D24 gene mutations that cause DOORS syndrome change single protein building blocks (amino acids) in the TBC1D24 protein sequence. These mutations are thought to reduce or eliminate the function of the TBC1D24 protein, but the specific mechanism by which loss of TBC1D24 function leads to the signs and symptoms of DOORS syndrome is not well understood.

TBC1D24 gene mutations have been identified in people with a form of early-infantile epileptic encephalopathy (EIEE16; also called malignant migrating partial seizures of infancy 16). These mutations likely result in impairment of TBC1D24 protein functions related to the development of the brain, but the specific connection between the mutations and the disorder is unclear.

MedlinePlus Genetics provides information about Nonsyndromic hearing loss

TBC1D24 gene mutations have also been identified in people with other seizure disorders, including familial infantile myoclonic epilepsy (FIME) and progressive myoclonus epilepsy (PME). These mutations likely result in impairment of TBC1D24 protein functions related to the development of the brain, but the specific connection between the mutations and these disorders is unclear.