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Article

A founder DBR1 variant causes a lethal form of congenital ichthyosis.

Human genetics - 1 Oct 2023

Shamseldin Hanan E, Sadagopan Mukunth, Martini Javier, Al-Ali Ruslan, Radefeldt Mandy, Ataei Mojgan, Lemke Sabrina, Rahbeeni Zuhair, Al Mutairi Fuad, Ababneh Faroug, AlRukban Hadeel A, Abdulwahab Firdous, Alhajj Saleh Mohammed, Bauer Peter, Bertoli-Avella Aida, Alkuraya Fowzan S

Abstract excerpt

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,...

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PMID: 37656279
DOI: 10.1007/s00439-023-02597-3

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