Haemophilia B, severe childhood obesity and other extra-haematological features associated with similar 4Mb-deletions on Xq27: Clinical findings, molecular insights and literature update.

Claudia P Radic,Miguel M Abelleyro,Betiana Ziegler,Vanina D Marchione,Julián Nevado,Pablo Lapunzina,Gabriela Sciuccati,Daniela Neme,Liliana C Rossetti,Mariana Bonduel,Carlos D De Brasi

Haemophilia : the official journal of the World Federation of Hemophilia（2023）

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摘要

Our results represent the first report of unrelated patients with HB, SCO and GDD. This study and the literature update expand the spectrum of clinical findings and molecular insights observed in patients with HB caused by complete F9 and nearby SOX3 and MAGEC2 gene deletions, which may configure a contiguous gene syndrome.

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关键词

Xq26.3-Xq27.2 deletions,anal atresia,bioinformatics,deletion breakpoints,global developmental delay,haemophilia B,pituitary hypothyroidism,severe childhood obesity

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