Article
Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals.
European journal of human genetics : EJHG - 1 Aug 2023
Sczakiel Henrike L, Zhao Max, Wollert-Wulf Brigitte, Danyel Magdalena, Ehmke Nadja, Stoltenburg Corinna, Damseh Nadirah, Al-Ashhab Motee, Balci Tugce B, Osmond Matthew, Andrade Andrea, Schallner Jens, Porrmann Joseph, McDonald Kimberly, Liao Mingjuan, Oppermann Henry, Platzer Konrad, Dierksen Nadine, Mojarrad Majid, Eslahi Atieh, Bakaeean Behnaz, Calame Daniel G, Lupski James R, Firoozfar Zahra, Seyedhassani Seyed Mohammad, Mohammadi Seyed Ahmad, Anwaar Najwa, Rahman Fatima, Seelow Dominik, Janz Martin, Horn Denise, Maroofian Reza, Boschann Felix
Abstract excerpt
FINCA syndrome [MIM: 618278] is an autosomal recessive multisystem disorder characterized by fibrosis, neurodegeneration and cerebral angiomatosis. To date, 13 patients from nine families with biallelic NHLRC2 variants have been published. In all of them, the recurrent missense variant p.(Asp148Tyr) was detected on at least one allele. Common manifestations included lung or muscle fibrosis, respiratory distress,...
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