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• W2955290493 abstract "Schaaf-Yang syndrome (SHFYNG) is caused by truncating mutations in the paternal allele of the <i>MAGEL2</i> gene located in the Prader-Willi syndrome region. We report 5 newborns affected with SHFYNG in one family. Trio exome analysis revealed a heterozygous c.1996dupC frameshift mutation in <i>MAGEL2</i> inherited from the unaffected father. The phenotypes showed strong resemblance, especially for severe respiratory disturbance requiring mechanical ventilation at birth. After discharge from the hospital, 4 of the patients died of respiratory insufficiency within 1 or 2 weeks after birth, and 1 child died after 110 days of aggravated apnea. Apnea or respiratory failure was the main cause of early death in this family. Respiratory distress is a common manifestation of SHFYNG, especially in patients with c.1996dupC mutations. Hypotonia is a main cause of respiratory disturbance, and we propose another possible cause affecting the respiratory center of the brain." @default.
• W2955290493 created "2019-07-12" @default.
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• W2955290493 date "2019-01-01" @default.
• W2955290493 modified "2023-10-05" @default.
• W2955290493 title "A Recurrent Variant in <b><i>MAGEL2</i></b> in Five Siblings with Severe Respiratory Disturbance after Birth" @default.
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• W2955290493 doi "https://doi.org/10.1159/000501376" @default.
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