Neonatal Med.  2022 Aug;29(3):112-116. 10.5385/nm.2022.29.3.112.

A Korean Child with Schaaf-Yang Syndrome Presented with Hearing Impairment: A Case Report

• Lee SH
• Shin SH
• Ko JM
• Kim B
• Oh HS
• Kim MJ
• Park SG
• Kim EK
• Kim HS

• KMID: 2533093
• DOI: http://doi.org/10.5385/nm.2022.29.3.112

Abstract

Schaaf-Yang syndrome (SYS) is a rare genomic imprinting disorder caused by truncating mutations in the paternally derived MAGE family member L2 (MAGEL2) allele. It is also responsible for Prader-Willi syndrome, characterized by neonatal hypotonia, developmental delay, intellectual disability, respiratory distress in early infancy, and arthrogryposis. More than 250 individuals with approximately 57 different molecular variants have been reported since 2013, but the phenotype-genotype association in SYS is not yet fully understood. Here, we describe the case of a Korean patient diagnosed with SYS harboring a mutation in the paternal allele of MAGEL2: c.2895G>A, resulting in a protein change of p.Trp965*. The patient’s phenotype included respiratory distress, arthrogryposis, hypotonia, and feeding difficulty in the early neonatal period. Mild renal dysfunction and hearing impairment were observed during infancy.

Keyword

Schaaf-Yang syndrome; MAGEL2; Respiratory distress; Hearing impairment

Figure

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  Figure 1. DNA electropherogram of allele-specific polymerase chain reaction and sequencing results of the patient using single nucleotide polymorphism (rs9785). Maternal allele (top), paternal allele (bottom) which harbors MAGE family member L2 (MAGEL2) variant (NM_019066.5:c.2895G>A).

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