Hanan E Shamseldin, Mukunth Sadagopan, Javier Martini, Ruslan Al-Ali, Mandy Radefeldt, Mojgan Ataei, Sabrina Lemke, Zuhair Rahbeeni, Fuad Al Mutairi, Faroug Ababneh, Hadeel A AlRukban, Firdous Abdulwahab, Saleh Mohammed Alhajj, Peter Bauer, Aida Bertoli-Avella, Fowzan S Alkuraya
DBR1 encodes the only known human lariat debranching enzyme and its deficiency has been found to cause an autosomal recessive inborn error of immunity characterized by pediatric brainstem viral-induced encephalitis (MIM 619441). We describe a distinct allelic disorder caused by a founder recessive DBR1 variant in four families (DBR1(NM_016216.4):c.200A > G (p.Tyr67Cys)). Consistent features include prematurity, severe intrauterine growth deficiency, congenital ichthyosis-like presentation (collodion membrane, severe skin peeling and xerosis), and death before the first year of life...
September 1, 2023: Human Genetics