The role of obesity in the fatal outcome of Schaaf-Yang syndrome: Early onset morbid obesity in a patient with a MAGEL2 mutation

American Journal of Medical Genetics. Part a
Lotte KleinendorstMieke M van Haelst

Abstract

Schaaf-Yang syndrome (SYS) was recently identified as a genetic condition resembling Prader-Willi syndrome. It is caused by mutations on the paternal allele of the MAGEL2 gene, a gene that has been mapped in the Prader-Willi critical region. Here, we present an infant with SYS who sadly died because of the combination of hypotonia, sleep apnea, and obesity. A heterozygous premature stop mutation in MAGEL2 was identified in the patient. The main factors reported in the mortality of SYS are lethal arthrogryposis multiplex congenita, fetal akinesia, and pulmonary problems. Our clinical report indicates that obesity and its complications are an important additional factor in the mortality associated with SYS. Therefore, we advise to strictly monitor weight and intensively treat overweight and obesity in SYS.

References

Oct 1, 2013·Nature Genetics·Christian P SchaafYaping Yang
Sep 15, 2015·American Journal of Human Genetics·Dan MejlachowiczJudith Melki
May 20, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Michael D FountainChristian P Schaaf
May 10, 2017·Annals of Translational Medicine·Mahmoud AbdelaalNeil G Docherty
Jan 24, 2018·American Journal of Medical Genetics. Part a·Takuji EnyaTsukasa Takemura
Feb 2, 2018·Clinical Dysmorphology·Karolina E MatuszewskaRafal Płoski
Mar 3, 2018·Journal of Medical Genetics·John M McCarthyChristian P Schaaf

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Citations

Aug 10, 2019·Clinical Genetics·Jameson PatakRobert R Lebel
Sep 11, 2019·The Journal of Clinical Endocrinology and Metabolism·Louise C GregoryMehul T Dattani
Jul 16, 2021·The Journal of Biological Chemistry·Matthea R SandersonRachel Wevrick

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