A Recurrent Variant in MAGEL2 in Five Siblings with Severe Respiratory Disturbance after Birth

Schaaf-Yang syndrome (SHFYNG) is caused by truncating mutations in the paternal allele of the MAGEL2 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 MAGEL2 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.

• Publication year

  2019

• Venue

  Molecular Syndromology

• Publication date

  2019-07-05

• Fields of study

  Medicine

• Identifiers
  DOI 10.1159/000501376PMID 32021601PMCID PMC6997796
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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