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- Title
A Korean Child with Schaaf-Yang Syndrome Presented with Hearing Impairment: A Case Report.
- Authors
Seung Hoon Lee; Seung Han Shin; Jung Min Ko; Boram Kim; Hyeon Sae Oh; Man Jin Kim; Seul Gi Park; Ee-Kyung Kim; Han-Suk Kim
- 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 phenotypegenotype 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.
- Subjects
HEARING disorders; GENOMIC imprinting; PRADER-Willi syndrome; SYNDROMES in children; DEVELOPMENTAL delay
- Publication
Neonatal Medicine, 2022, Vol 29, Issue 3, p112
- ISSN
2287-9412
- Publication type
Case Study
- DOI
10.5385/nm.2022.29.3.112