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Editorial
. 2023 Dec 20;11(12):405.
doi: 10.21037/atm-23-1718. Epub 2023 Aug 28.

Morbidity and mortality in Schaaf-Yang syndrome

Johann Georg Maaß  1 , Heiko Brennenstuhl  1 , Christian Patrick Schaaf  1
Affiliations
Editorial

Morbidity and mortality in Schaaf-Yang syndrome

Johann Georg Maaß et al. Ann Transl Med. .
No abstract available

Keywords: China Neonatal Genomes Project (CNGP); Prader-Willi syndrome (PWS); Schaaf-Yang syndrome (SYS); whole exome sequencing (WES).

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Conflict of interest statement

Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at https://atm.amegroups.com/article/view/10.21037/atm-23-1718/coif). C.P.S. reports that he received funding from the Foundation of Prader-Willi Research, the German Ministry of Health and the German Ministry of Research and Education. He received royalties for a genetics textbook by Springer. Payment for expert testimony (provided to Hayes solicitors) and payment for his work on a ClinGen working group is paid to his institution. He is a member of the Scientific Program Committee of ESHG. His travel has been supported by ESHG and the German Society of Human Genetics. The other authors have no conflicts of interest to declare.

Figures

Figure 1
Figure 1
Distribution of the 134 pathogenic variants reported by Huang et al. and general variants found in gnomAD. Pathogenic variants reported in diseased individuals are visualised via the dots. Of the 18 dead patients with a mutation in c.1996, 12 had a duplication and 6 a deletion. Whether the mutation in c.3583 is the cause for the death of the respective individual remains unknown. gnomAD, Genome Aggregation Database; cDNA, complementary DNA.
See this image and copyright information in PMC

Comment on

References

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