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A case of Smith–Magenis syndrome with skin manifestations caused by a novel locus mutation in the RAI1 gene
We report the clinical features and genetic testing of a child with Smith–Magenis syndrome (SMS) to improve the understanding of this disease. The clinical data and molecular genetic test results of a child with SMS caused by a novel mutation in the retinoic acid-induced-1 (RAI1) gene were reviewed....
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10683568/ https://www.ncbi.nlm.nih.gov/pubmed/37756600 http://dx.doi.org/10.1177/03000605231190553 |
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author | Wu, Xiaobin Zhang, Li Chen, Sisi Li, Yanxi |
author_facet | Wu, Xiaobin Zhang, Li Chen, Sisi Li, Yanxi |
author_sort | Wu, Xiaobin |
collection | PubMed |
description | We report the clinical features and genetic testing of a child with Smith–Magenis syndrome (SMS) to improve the understanding of this disease. The clinical data and molecular genetic test results of a child with SMS caused by a novel mutation in the retinoic acid-induced-1 (RAI1) gene were reviewed. A female patient aged 12 years and 9 months presented to the clinic because her mental and motor development was lagging behind that of her peers. The child had learning difficulties, poor motor coordination, temper tantrums, and self-injurious behaviors, such as skin scratching. She had a peculiar facial appearance, dry skin with scattered eczema, low hairline, wide forehead, flat face, collapsed nasal bridge, turned out upper lip, and deep palmar lines on the right hand through the palm. Wechsler’s IQ test score was 48. Her electroencephalogram was normal. The diagnosis of SMS was confirmed by a heterozygous mutation in exon 3 of the RAI1 gene on chromosome chr-1717696650 at locus c.388C>T (P.Q130X). In addition, this patient had severe eczema on the skin. The RAI1 mutation c.388C>T (P.Q130X) is a newly reported variant that will help in the clinical identification of SMS and the precise localization of more phenotypically related genes. |
format | Online Article Text |
id | pubmed-10683568 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | SAGE Publications |
record_format | MEDLINE/PubMed |
spelling | pubmed-106835682023-11-30 A case of Smith–Magenis syndrome with skin manifestations caused by a novel locus mutation in the RAI1 gene Wu, Xiaobin Zhang, Li Chen, Sisi Li, Yanxi J Int Med Res Case Reports We report the clinical features and genetic testing of a child with Smith–Magenis syndrome (SMS) to improve the understanding of this disease. The clinical data and molecular genetic test results of a child with SMS caused by a novel mutation in the retinoic acid-induced-1 (RAI1) gene were reviewed. A female patient aged 12 years and 9 months presented to the clinic because her mental and motor development was lagging behind that of her peers. The child had learning difficulties, poor motor coordination, temper tantrums, and self-injurious behaviors, such as skin scratching. She had a peculiar facial appearance, dry skin with scattered eczema, low hairline, wide forehead, flat face, collapsed nasal bridge, turned out upper lip, and deep palmar lines on the right hand through the palm. Wechsler’s IQ test score was 48. Her electroencephalogram was normal. The diagnosis of SMS was confirmed by a heterozygous mutation in exon 3 of the RAI1 gene on chromosome chr-1717696650 at locus c.388C>T (P.Q130X). In addition, this patient had severe eczema on the skin. The RAI1 mutation c.388C>T (P.Q130X) is a newly reported variant that will help in the clinical identification of SMS and the precise localization of more phenotypically related genes. SAGE Publications 2023-09-27 /pmc/articles/PMC10683568/ /pubmed/37756600 http://dx.doi.org/10.1177/03000605231190553 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by-nc/4.0/Creative Commons Non Commercial CC BY-NC: This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage). |
spellingShingle | Case Reports Wu, Xiaobin Zhang, Li Chen, Sisi Li, Yanxi A case of Smith–Magenis syndrome with skin manifestations caused by a novel locus mutation in the RAI1 gene |
title | A case of Smith–Magenis syndrome with skin manifestations caused by a novel locus mutation in the RAI1 gene |
title_full | A case of Smith–Magenis syndrome with skin manifestations caused by a novel locus mutation in the RAI1 gene |
title_fullStr | A case of Smith–Magenis syndrome with skin manifestations caused by a novel locus mutation in the RAI1 gene |
title_full_unstemmed | A case of Smith–Magenis syndrome with skin manifestations caused by a novel locus mutation in the RAI1 gene |
title_short | A case of Smith–Magenis syndrome with skin manifestations caused by a novel locus mutation in the RAI1 gene |
title_sort | case of smith–magenis syndrome with skin manifestations caused by a novel locus mutation in the rai1 gene |
topic | Case Reports |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10683568/ https://www.ncbi.nlm.nih.gov/pubmed/37756600 http://dx.doi.org/10.1177/03000605231190553 |
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