Severe neurodevelopmental disease caused by a homozygous TLK2 variant


Topf A., OKTAY Y., Balaraju S., Yilmaz E., Sonmezler E., YİŞ U., ...Daha Fazla

EUROPEAN JOURNAL OF HUMAN GENETICS, cilt.28, ss.383-387, 2020 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 28 Konu: 3
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1038/s41431-019-0519-x
  • Dergi Adı: EUROPEAN JOURNAL OF HUMAN GENETICS
  • Sayfa Sayıları: ss.383-387

Özet

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.