Table 2.
TBC1D24 Mutations and Associated Phenotypes
| Origin | Phenotype | Mutationa | Zygosity in Affected Individuals | Reference |
|---|---|---|---|---|
| Pakistan | nonsyndromic deafness | c.208G>T (p.Asp70Tyr) | homozygous | this study |
| Pakistan | nonsyndromic deafness | c.878G>C (p.Arg293Pro) | homozygous | this study |
| Turkey | myoclonic epilepsy, dystonia, developmental and neurological disability, childhood lethality | c.969_970delGT (p.Ser324Thrfs∗3) | homozygous | Guven et al.33 |
| Israel | focal epilepsy and intellectual disability | c.751T>C (p.Phe251Leu) | homozygous | Corbett et al.34 |
| Italy | myoclonic and generalized tonic-clonic seizures, photosensitivity | c.439G>C (p.Asp147His) | compound heterozygous | Falace et al.24 |
| c.1544C>T (p.Ala515Val)b | ||||
| Not reported | malignant migrating partial seizures of infancy | c.468C>A (p.Cys156∗) | compound heterozygous | Milh et al.35 |
| c.686T>C (p.Phe229Ser) |
a
Nomenclature in this table is based on the longest isoform (RefSeq NM_001199107.1 and NP_001186036.1) of TBC1D24.
b
Reported as p.Ala509Val on the basis of a shorter isoform (RefSeq NP_065756.1) of TBC1D24.