Biallelic TOR1A variants in an infant with severe arthrogryposis
نویسندگان
چکیده
DYT1 early-onset primary dystonia (DYT1) is a well-described dystonia caused by an in-frame GAG nucleotide deletion in the TOR1A gene, c.907_909delGAG. The only phenotype linked to TOR1A is dystonia. Homozygous GAG deletions or compound heterozygosity for mutations in TOR1A have never been reported in humans. Arthrogryposis, defined as multiple congenital contractures, affects 1 in 3,000–5,000 births. The underlying etiology for arthrogryposis is broad, and includes neurologic disease, maternal illness, myopathic processes, among many others. The number of genetic factors causing arthrogryposis is vast, with over 150 genes currently identified. We report an infant with a severe congenital phenotype characterized by arthrogryposis, respiratory failure, and feeding difficulties found to have biallelic mutations in TOR1A identified by whole-exome sequencing (WES).
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