A Korean Child with Schaaf-Yang Syndrome Presented with Hearing Impairment: A Case Report
| Autor: | 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 |
|---|---|
| Jazyk: | English<br />Korean |
| Rok vydání: | 2022 |
| Předmět: | |
| Zdroj: | Neonatal Medicine, Vol 29, Iss 3, Pp 112-116 (2022) |
| Druh dokumentu: | article |
| ISSN: | 2287-9412 2287-9803 |
| DOI: | 10.5385/nm.2022.29.3.112 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
| Externí odkaz: |
|