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A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.
Mucha BE, Banka S, Ajeawung NF, Molidperee S, Chen GG, Koenig MK, Adejumo RB, Till M, Harbord M, Perrier R, Lemyre E, Boucher RM, Skotko BG, Waxler JL, Thomas MA, Hodge JC, Gecz J, Nicholl J, McGregor L, Linden T, Sisodiya SM, Sanlaville D, Cheung SW, Ernst C, Campeau PM. Mucha BE, et al. Genet Med. 2019 May;21(5):1058-1064. doi: 10.1038/s41436-018-0290-3. Epub 2018 Sep 24. Genet Med. 2019. PMID: 30245510 Free article.
METHODS: Clinical information on the patients and bioinformatic scores for the deleted genes were analyzed. RESULTS: All individuals in our cohort displayed developmental delay, intellectual disability, and various forms of seizures. ...Bi-allelic TBC1D24 pathogenic varian …
METHODS: Clinical information on the patients and bioinformatic scores for the deleted genes were analyzed. RESULTS: All individuals …
TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.
Azaiez H, Booth KT, Bu F, Huygen P, Shibata SB, Shearer AE, Kolbe D, Meyer N, Black-Ziegelbein EA, Smith RJ. Azaiez H, et al. Hum Mutat. 2014 Jul;35(7):819-23. doi: 10.1002/humu.22557. Epub 2014 May 6. Hum Mutat. 2014. PMID: 24729539 Free PMC article.
Ser178 is highly conserved across vertebrates and its change is predicted to be damaging. Other variants in TBC1D24 have been associated with a panoply of clinical symptoms including autosomal recessive NSHL, syndromic hearing impairment associated with onychodystrophy, os …
Ser178 is highly conserved across vertebrates and its change is predicted to be damaging. Other variants in TBC1D24 have been associa …
TBC1D24 regulates axonal outgrowth and membrane trafficking at the growth cone in rodent and human neurons.
Aprile D, Fruscione F, Baldassari S, Fadda M, Ferrante D, Falace A, Buhler E, Sartorelli J, Represa A, Baldelli P, Benfenati F, Zara F, Fassio A. Aprile D, et al. Cell Death Differ. 2019 Nov;26(11):2464-2478. doi: 10.1038/s41418-019-0313-x. Epub 2019 Mar 11. Cell Death Differ. 2019. PMID: 30858606 Free PMC article.
Mutations in TBC1D24 are described in patients with a spectrum of neurological diseases, including mild and severe epilepsies and complex syndromic phenotypes such as Deafness, Onycodystrophy, Osteodystrophy, Mental Retardation and Seizure (DOORS) syndrome. The prod …
Mutations in TBC1D24 are described in patients with a spectrum of neurological diseases, including mild and severe epilepsies and complex sy …
Early-onset epileptic encephalopathy with hearing loss in two siblings with TBC1D24 recessive mutations.
Stražišar BG, Neubauer D, Paro Panjan D, Writzl K. Stražišar BG, et al. Eur J Paediatr Neurol. 2015 Mar;19(2):251-6. doi: 10.1016/j.ejpn.2014.12.011. Epub 2014 Dec 20. Eur J Paediatr Neurol. 2015. PMID: 25557349
BACKGROUND: Recent studies have shown that recessive mutations in the TBC1D24 gene cause a variety of epilepsy syndromes, DOORS syndrome and nonsyndromic deafness. METHODS/RESULTS: We report on two siblings with hypotonia, early-onset epileptic encephalopathy, and s …
BACKGROUND: Recent studies have shown that recessive mutations in the TBC1D24 gene cause a variety of epilepsy syndromes, DOORS sy …
Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.
Poulat AL, Ville D, de Bellescize J, André-Obadia N, Cacciagli P, Milh M, Villard L, Lesca G. Poulat AL, et al. Epilepsy Res. 2015 Mar;111:72-7. doi: 10.1016/j.eplepsyres.2015.01.008. Epub 2015 Jan 25. Epilepsy Res. 2015. PMID: 25769375
More recently, TBC1D24 mutations have been shown to cause a variable range of disorders, including epilepsy of various seizure types and severity, non-syndromic deafness, and DOORS syndrome. We report on the electro-clinical features of two brothers, born to first-c …
More recently, TBC1D24 mutations have been shown to cause a variable range of disorders, including epilepsy of various seizure types and sev …