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Keywords = ribosomal protein S6 kinase polypeptide 3 (RPS6KA3)

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7 pages, 2163 KiB  
Case Report
Coffin-Lowry Syndrome Induced by RPS6KA3 Gene Variation in China: A Case Report in Twins
by Huiying Jin, Haifeng Li and Shu Qiang
Medicina 2022, 58(7), 958; https://doi.org/10.3390/medicina58070958 - 20 Jul 2022
Cited by 2 | Viewed by 3283
Abstract
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 [...] Read more.
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 RPS6KA3 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 RPS6KA3 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. Full article
(This article belongs to the Section Pediatrics)
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