Longitudinal analysis of electroencephalography pattern changes in an infant with Schaaf‐Yang syndrome and a novel mutation in melanoma antigen L2 (MAGEL2)
Abstract Background Schaaf‐Yang syndrome (SYS) is a rare hereditary disease caused by truncating point mutations of the paternal allele of melanoma antigen L2 (MAGEL2), one of five protein‐coding genes within the Prader‐Willi syndrome (PWS) critical domain. SYS shares many clinical and molecular cha...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2022-06-01
|
| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.1932 |
| _version_ | 1818552743822884864 |
|---|---|
| author | Shinsuke Mizuno Koji Yokoyama Atsushi Yokoyama Takayuki Nukata Yuka Ikeda Shigeto Hara |
| author_facet | Shinsuke Mizuno Koji Yokoyama Atsushi Yokoyama Takayuki Nukata Yuka Ikeda Shigeto Hara |
| author_sort | Shinsuke Mizuno |
| collection | DOAJ |
| description | Abstract Background Schaaf‐Yang syndrome (SYS) is a rare hereditary disease caused by truncating point mutations of the paternal allele of melanoma antigen L2 (MAGEL2), one of five protein‐coding genes within the Prader‐Willi syndrome (PWS) critical domain. SYS shares many clinical and molecular characteristics with PWS but has some distinct features, such as joint contractures and autism. Patients with PWS show abnormal electroencephalography (EEG) patterns. However, there are very few reports on EEG findings in patients with SYS. Methods A SYS patient was included in this study. Detailed neurological examinations and EEG were performed from neonate to infant ages. Sanger sequencing was performed. Results Our patient presented abnormal EEG findings and had diffuse brain dysfunction symptoms including a reduced level of consciousness, diminished spontaneous movements, hypotonia, feeding difficulties, and hypoventilation from early after birth. As she grew older and her background activity of EEG normalized, her neurodevelopmental symptoms remained but improved. Sanger sequencing of this patient revealed a novel, heterozygous c.2005C > T, truncating mutation in the MEGAL2 gene. Conclusions We described an SYS‐associated, time‐dependent, EEG pattern in a patient with SYS. Our findings of longitudinal EEG changes in a patient with SYS revealed a specific pattern of how affected individuals develop brain function. |
| first_indexed | 2024-12-12T09:17:10Z |
| format | Article |
| id | doaj.art-51955a8ec7494325ba1fbed920e0f7fa |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-12-12T09:17:10Z |
| publishDate | 2022-06-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-51955a8ec7494325ba1fbed920e0f7fa2022-12-22T00:29:21ZengWileyMolecular Genetics & Genomic Medicine2324-92692022-06-01106n/an/a10.1002/mgg3.1932Longitudinal analysis of electroencephalography pattern changes in an infant with Schaaf‐Yang syndrome and a novel mutation in melanoma antigen L2 (MAGEL2)Shinsuke Mizuno0Koji Yokoyama1Atsushi Yokoyama2Takayuki Nukata3Yuka Ikeda4Shigeto Hara5Department of Pediatrics Japanese Red Cross Society Wakayama Medical Center Wakayama City JapanDepartment of Pediatrics Japanese Red Cross Society Wakayama Medical Center Wakayama City JapanDepartment of Pediatrics Kyoto University Graduate School of Medicine Kyoto JapanDepartment of Pediatrics Japanese Red Cross Society Wakayama Medical Center Wakayama City JapanDepartment of Pediatrics Japanese Red Cross Society Wakayama Medical Center Wakayama City JapanDepartment of Pediatrics Japanese Red Cross Society Wakayama Medical Center Wakayama City JapanAbstract Background Schaaf‐Yang syndrome (SYS) is a rare hereditary disease caused by truncating point mutations of the paternal allele of melanoma antigen L2 (MAGEL2), one of five protein‐coding genes within the Prader‐Willi syndrome (PWS) critical domain. SYS shares many clinical and molecular characteristics with PWS but has some distinct features, such as joint contractures and autism. Patients with PWS show abnormal electroencephalography (EEG) patterns. However, there are very few reports on EEG findings in patients with SYS. Methods A SYS patient was included in this study. Detailed neurological examinations and EEG were performed from neonate to infant ages. Sanger sequencing was performed. Results Our patient presented abnormal EEG findings and had diffuse brain dysfunction symptoms including a reduced level of consciousness, diminished spontaneous movements, hypotonia, feeding difficulties, and hypoventilation from early after birth. As she grew older and her background activity of EEG normalized, her neurodevelopmental symptoms remained but improved. Sanger sequencing of this patient revealed a novel, heterozygous c.2005C > T, truncating mutation in the MEGAL2 gene. Conclusions We described an SYS‐associated, time‐dependent, EEG pattern in a patient with SYS. Our findings of longitudinal EEG changes in a patient with SYS revealed a specific pattern of how affected individuals develop brain function.https://doi.org/10.1002/mgg3.1932electroencephalographyMAGEL2neurodevelopmental disordersSchaaf‐Yang syndrome |
| spellingShingle | Shinsuke Mizuno Koji Yokoyama Atsushi Yokoyama Takayuki Nukata Yuka Ikeda Shigeto Hara Longitudinal analysis of electroencephalography pattern changes in an infant with Schaaf‐Yang syndrome and a novel mutation in melanoma antigen L2 (MAGEL2) Molecular Genetics & Genomic Medicine electroencephalography MAGEL2 neurodevelopmental disorders Schaaf‐Yang syndrome |
| title | Longitudinal analysis of electroencephalography pattern changes in an infant with Schaaf‐Yang syndrome and a novel mutation in melanoma antigen L2 (MAGEL2) |
| title_full | Longitudinal analysis of electroencephalography pattern changes in an infant with Schaaf‐Yang syndrome and a novel mutation in melanoma antigen L2 (MAGEL2) |
| title_fullStr | Longitudinal analysis of electroencephalography pattern changes in an infant with Schaaf‐Yang syndrome and a novel mutation in melanoma antigen L2 (MAGEL2) |
| title_full_unstemmed | Longitudinal analysis of electroencephalography pattern changes in an infant with Schaaf‐Yang syndrome and a novel mutation in melanoma antigen L2 (MAGEL2) |
| title_short | Longitudinal analysis of electroencephalography pattern changes in an infant with Schaaf‐Yang syndrome and a novel mutation in melanoma antigen L2 (MAGEL2) |
| title_sort | longitudinal analysis of electroencephalography pattern changes in an infant with schaaf yang syndrome and a novel mutation in melanoma antigen l2 magel2 |
| topic | electroencephalography MAGEL2 neurodevelopmental disorders Schaaf‐Yang syndrome |
| url | https://doi.org/10.1002/mgg3.1932 |
| work_keys_str_mv | AT shinsukemizuno longitudinalanalysisofelectroencephalographypatternchangesinaninfantwithschaafyangsyndromeandanovelmutationinmelanomaantigenl2magel2 AT kojiyokoyama longitudinalanalysisofelectroencephalographypatternchangesinaninfantwithschaafyangsyndromeandanovelmutationinmelanomaantigenl2magel2 AT atsushiyokoyama longitudinalanalysisofelectroencephalographypatternchangesinaninfantwithschaafyangsyndromeandanovelmutationinmelanomaantigenl2magel2 AT takayukinukata longitudinalanalysisofelectroencephalographypatternchangesinaninfantwithschaafyangsyndromeandanovelmutationinmelanomaantigenl2magel2 AT yukaikeda longitudinalanalysisofelectroencephalographypatternchangesinaninfantwithschaafyangsyndromeandanovelmutationinmelanomaantigenl2magel2 AT shigetohara longitudinalanalysisofelectroencephalographypatternchangesinaninfantwithschaafyangsyndromeandanovelmutationinmelanomaantigenl2magel2 |