Biallelic TOR1A mutations cause severe arthrogryposis: A case requiring reverse phenotyping.
Makaleler > Tam Makale · 2019
Yazarlar: Esra IŞIK, Ayça AYKUT, Tahir ATİK, Muhsin Özgür ÇOĞULU, Feriştah Ferda ÖZKINAY
EUROPEAN JOURNAL OF MEDICAL GENETICS, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2019, cilt 62, ss 103544-103544
DOI: 10.1016/j.ejmg.2018.09.011
Özet
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.