A Korean Child with Schaaf-Yang Syndrome Presented with Hearing Impairment: A Case Report
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, respir...
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| Format: | Article |
| Language: | English |
| Published: |
Korean Society of Neonatology
2022-08-01
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| Series: | Neonatal Medicine |
| Subjects: | |
| Online Access: | http://neo-med.org/upload/pdf/nm-2022-29-3-112.pdf |
| _version_ | 1811276728079745024 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Seung Hoon Lee |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-13T00:02:54Z |
| format | Article |
| id | doaj.art-de4e4bed93c04833b55a4930bdab3326 |
| institution | Directory Open Access Journal |
| issn | 2287-9412 2287-9803 |
| language | English |
| last_indexed | 2024-04-13T00:02:54Z |
| publishDate | 2022-08-01 |
| publisher | Korean Society of Neonatology |
| record_format | Article |
| series | Neonatal Medicine |
| spelling | doaj.art-de4e4bed93c04833b55a4930bdab33262022-12-22T03:11:19ZengKorean Society of NeonatologyNeonatal Medicine2287-94122287-98032022-08-0129311211610.5385/nm.2022.29.3.1121066A Korean Child with Schaaf-Yang Syndrome Presented with Hearing Impairment: A Case ReportSeung Hoon Lee0Seung Han Shin1Jung Min Ko2Boram Kim3Hyeon Sae Oh4Man Jin Kim5Seul Gi Park6Ee-Kyung Kim7Han-Suk Kim8 Department of Pediatrics, Seoul National University Children’s Hospital, Seoul National University College of Medicine, Seoul, Korea Department of Pediatrics, Seoul National University Children’s Hospital, Seoul National University College of Medicine, Seoul, Korea Department of Pediatrics, Seoul National University Children’s Hospital, Seoul National University College of Medicine, Seoul, Korea Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea Department of Pediatrics, Seoul National University Children’s Hospital, Seoul National University College of Medicine, Seoul, Korea Department of Pediatrics, Seoul National University Children’s Hospital, Seoul National University College of Medicine, Seoul, Korea Department of Pediatrics, Seoul National University Children’s Hospital, Seoul National University College of Medicine, Seoul, KoreaSchaaf-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.http://neo-med.org/upload/pdf/nm-2022-29-3-112.pdfschaaf-yang syndromemagel2respiratory distresshearing impairment |
| spellingShingle | 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 A Korean Child with Schaaf-Yang Syndrome Presented with Hearing Impairment: A Case Report Neonatal Medicine schaaf-yang syndrome magel2 respiratory distress hearing impairment |
| title | A Korean Child with Schaaf-Yang Syndrome Presented with Hearing Impairment: A Case Report |
| title_full | A Korean Child with Schaaf-Yang Syndrome Presented with Hearing Impairment: A Case Report |
| title_fullStr | A Korean Child with Schaaf-Yang Syndrome Presented with Hearing Impairment: A Case Report |
| title_full_unstemmed | A Korean Child with Schaaf-Yang Syndrome Presented with Hearing Impairment: A Case Report |
| title_short | A Korean Child with Schaaf-Yang Syndrome Presented with Hearing Impairment: A Case Report |
| title_sort | korean child with schaaf yang syndrome presented with hearing impairment a case report |
| topic | schaaf-yang syndrome magel2 respiratory distress hearing impairment |
| url | http://neo-med.org/upload/pdf/nm-2022-29-3-112.pdf |
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