Yayınlanmış 1 Ocak 2020
| Sürüm v1
Dergi makalesi
Açık
Severe neurodevelopmental disease caused by a homozygous TLK2 variant
Yazarlar/Oluşturanlar
- 1. Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England
- 2. Dokuz Eylul Univ, Sch Med, Dept Paediat Neurol, Izmir, Turkey
- 3. Barcelona Inst Sci & Technol, Ctr Genom Regulat, CNAG CRG, Barcelona, Spain
- 4. Diyarbakir Mem Hosp, Pediat Neurol Clin, Diyarbakir, Turkey
- 5. Inonu Univ, Fac Med, Turgut Ozal Res Ctr, Dept Paediat Neurol, Malatya, Turkey
Açıklama
A distinct neurodevelopmental phenotype characterised mainly by mild motor and language delay and facial dysmorphism, caused by heterozygous de novo or dominant variants in the TLK2 gene has recently been described. All cases reported carried either truncating variants located throughout the gene, or missense changes principally located at the C-terminal end of the protein mostly resulting in haploinsufficiency of TLK2. Through whole exome sequencing, we identified a homozygous missense variant in TLK2 in a patient showing more severe symptoms than those previously described, including cerebellar vermis hypoplasia and West syndrome. Both parents are heterozygous for the variant and clinically unaffected highlighting that recessive variants in TLK2 can also be disease causing and may act through a different pathomechanism.
Dosyalar
bib-189adeed-e8fc-4ac9-b64d-c7d90fabd406.txt
Dosyalar
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