|
KMID : 1039920220290030112
|
|
Neonatal Medicine
2022 Volume.29 No. 3 p.112 ~ p.116
|
|
|
A Korean Child with Schaaf-Yang Syndrome Presented with Hearing Impairment: A Case Report
|
|
Lee Seung-Hoon
Shin Seung-Han
Ko Jung-Min
Kim Bo-Ram
Oh Hyeon-Sae
Kim Man-Jin
Park Seul-Gi
Kim Ee-Kyung
Kim Han-Suk
|
|
|
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
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
 
|
|