Coffin-Lowry Syndrome Induced by <i>RPS6KA3</i> Gene Variation in China: A Case Report in Twins
Background and objectives: Coffin-Lowry Syndrome (CLS), a rare neurodegenerative disorder, is mainly diagnosed based on clinical manifestations and molecular analyses. In total, about 20 cases of CLS have been reported in China. Here, we report two cases of CLS in identical twin brothers and examine...
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| Format: | Article |
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MDPI AG
2022-07-01
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| Series: | Medicina |
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| Online Access: | https://www.mdpi.com/1648-9144/58/7/958 |
| _version_ | 1827605099588878336 |
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| author | Huiying Jin Haifeng Li Shu Qiang |
| author_facet | Huiying Jin Haifeng Li Shu Qiang |
| author_sort | Huiying Jin |
| collection | DOAJ |
| description | Background and objectives: Coffin-Lowry Syndrome (CLS), a rare neurodegenerative disorder, is mainly diagnosed based on clinical manifestations and molecular analyses. In total, about 20 cases of CLS have been reported in China. Here, we report two cases of CLS in identical twin brothers and examine their potential causative mutations. Methods: The Trio mode was used in this analysis, i.e., DNA from the proband and his parents was sequenced. Furthermore, DNA from the proband’s twin brother was used for confirmation. Results: A hemizygous variation was detected in the 11th exon of the <i>RPS6KA3</i> gene, c.898C>T (p.R300*) of the proband, and the same site variation was detected in his identical twin brother; however, the mutation was not detected in his parents. Conclusions: The <i>RPS6KA3</i> gene mutation c.898C>T (p.R300*) is the causative factor of familial CLS. The variant detected was reported for the first time in the Chinese population. Additionally, by analyzing the previous literature, we were able to summarize the phenotypic and genetic characteristics of GLS in China. |
| first_indexed | 2024-03-09T06:14:59Z |
| format | Article |
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| issn | 1010-660X 1648-9144 |
| language | English |
| last_indexed | 2024-03-09T06:14:59Z |
| publishDate | 2022-07-01 |
| publisher | MDPI AG |
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| series | Medicina |
| spelling | doaj.art-a28acc630b04413ba0a8038ac5bd889b2023-12-03T11:55:04ZengMDPI AGMedicina1010-660X1648-91442022-07-0158795810.3390/medicina58070958Coffin-Lowry Syndrome Induced by <i>RPS6KA3</i> Gene Variation in China: A Case Report in TwinsHuiying Jin0Haifeng Li1Shu Qiang2Department of Rehabilitation, The Children’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, ChinaDepartment of Rehabilitation, The Children’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, ChinaDepartment of Rehabilitation, The Children’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, ChinaBackground and objectives: Coffin-Lowry Syndrome (CLS), a rare neurodegenerative disorder, is mainly diagnosed based on clinical manifestations and molecular analyses. In total, about 20 cases of CLS have been reported in China. Here, we report two cases of CLS in identical twin brothers and examine their potential causative mutations. Methods: The Trio mode was used in this analysis, i.e., DNA from the proband and his parents was sequenced. Furthermore, DNA from the proband’s twin brother was used for confirmation. Results: A hemizygous variation was detected in the 11th exon of the <i>RPS6KA3</i> gene, c.898C>T (p.R300*) of the proband, and the same site variation was detected in his identical twin brother; however, the mutation was not detected in his parents. Conclusions: The <i>RPS6KA3</i> gene mutation c.898C>T (p.R300*) is the causative factor of familial CLS. The variant detected was reported for the first time in the Chinese population. Additionally, by analyzing the previous literature, we were able to summarize the phenotypic and genetic characteristics of GLS in China.https://www.mdpi.com/1648-9144/58/7/958twinsribosomal protein S6 kinase polypeptide 3 (<i>RPS6KA3</i>)Coffin-Lowry Syndrome |
| spellingShingle | Huiying Jin Haifeng Li Shu Qiang Coffin-Lowry Syndrome Induced by <i>RPS6KA3</i> Gene Variation in China: A Case Report in Twins Medicina twins ribosomal protein S6 kinase polypeptide 3 (<i>RPS6KA3</i>) Coffin-Lowry Syndrome |
| title | Coffin-Lowry Syndrome Induced by <i>RPS6KA3</i> Gene Variation in China: A Case Report in Twins |
| title_full | Coffin-Lowry Syndrome Induced by <i>RPS6KA3</i> Gene Variation in China: A Case Report in Twins |
| title_fullStr | Coffin-Lowry Syndrome Induced by <i>RPS6KA3</i> Gene Variation in China: A Case Report in Twins |
| title_full_unstemmed | Coffin-Lowry Syndrome Induced by <i>RPS6KA3</i> Gene Variation in China: A Case Report in Twins |
| title_short | Coffin-Lowry Syndrome Induced by <i>RPS6KA3</i> Gene Variation in China: A Case Report in Twins |
| title_sort | coffin lowry syndrome induced by i rps6ka3 i gene variation in china a case report in twins |
| topic | twins ribosomal protein S6 kinase polypeptide 3 (<i>RPS6KA3</i>) Coffin-Lowry Syndrome |
| url | https://www.mdpi.com/1648-9144/58/7/958 |
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