Biallelic TOR1A mutations cause severe arthrogryposis: A case requiring reverse phenotyping.

IŞIK E. , AYKUT A. , ATİK T. , Cogulu O. , Ozkinay F. F.

European journal of medical genetics, cilt.62, ss.103544, 2019 (SCI Expanded İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 62 Konu: 9
  • Basım Tarihi: 2019
  • Doi Numarası: 10.1016/j.ejmg.2018.09.011
  • Dergi Adı: European journal of medical genetics
  • Sayfa Sayıları: ss.103544


Heterozygous mutations in TOR1A gene are known to be responsible for DYT1 dystonia with incomplete penetrance. Autosomal recessive TOR1A disease is a very recently described syndrome characterized by severe arthrogryposis, developmental delay, strabismus and tremor. A 2 month-old boy with severe arthrogryposis and developmental delay was referred to our department for genetic counseling. Dystonic movements were observed on physical examination. Whole exome sequencing revealed a homozygous nonsense variant in exon 5 of TOR1A (c.862C > T, p.Arg288*). Our results expand the phenotypic and mutational spectrum of biallelic TOR1A disease, while emphasizing the importance of reverse phenotyping in the diagnosis of rare genetic disorders.