Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2026
[Genetic analysis of a boy with congenital variant Rett syndrome due to a novel variant of FOXG1 gene and literature review].
СтатьяКлинический случайОбзорАннотация на английскомНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Li Xin, Qiang Rong, Wang Lin, Liu Yuan, Zhou Xiaoyan, Wang Rui
Аннотация
OBJECTIVE: To explore the clinical manifestations and genetic etiology of a boy with congenital variant Rett syndrome (RTT).
METHODS: A boy presented at the Medical Genetics Center of Northwest Women's and Children's Hospital in June 2023 due to "mental retardation" was selected as the study subject. Clinical data including history of birth, growth and development, and clinical manifestations were collected. Peripheral blood samples were collected from the boy and his parents. Following extraction of genomic DNA, whole-exome sequencing (WES) was carried out. Candidate variant was verified by Sanger sequencing. Pathogenicity of the variant was rated based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). Previous literature on male RTT caused by FOXG1 gene variants was retrieved from databases including China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, PubMed, and the phenotypes of the included cases were summarized. This study was approved by the Ethics Committee of the hospital (Ethics No.: 21 -036).
RESULTS: The patient, a 6-year-old male, presented with microcephaly, mental retardation, and so forth. WES revealed that he has harbored a heterozygous c.761A>G (p.Tyr254Cys) variant of the FOXG1 gene. The variant was unreported previously. Sanger sequencing verified that the variant was de novo in origin. Based on the ACMG guidelines, the variant was classified as pathogenic (PM1+PS2_Moderate+PP2+PP3_Strong+PM2_Supporting). In total seven relevant articles were retrieved. Together with our case, a total of 10 male RTT patients were included for the analysis of clinical manifestations and genetic etiology.
CONCLUSION: The heterozygous c.761A>G (p.Tyr254Cys) variant of the FOXG1 gene probably underlay the pathogenesis of male RTT in this patient. Above finding has enriched the mutational spectrum of the FOXG1 gene and facilitated understanding of the genotype-phenotype correlation of congenital variant RTT.
METHODS: A boy presented at the Medical Genetics Center of Northwest Women's and Children's Hospital in June 2023 due to "mental retardation" was selected as the study subject. Clinical data including history of birth, growth and development, and clinical manifestations were collected. Peripheral blood samples were collected from the boy and his parents. Following extraction of genomic DNA, whole-exome sequencing (WES) was carried out. Candidate variant was verified by Sanger sequencing. Pathogenicity of the variant was rated based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). Previous literature on male RTT caused by FOXG1 gene variants was retrieved from databases including China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, PubMed, and the phenotypes of the included cases were summarized. This study was approved by the Ethics Committee of the hospital (Ethics No.: 21 -036).
RESULTS: The patient, a 6-year-old male, presented with microcephaly, mental retardation, and so forth. WES revealed that he has harbored a heterozygous c.761A>G (p.Tyr254Cys) variant of the FOXG1 gene. The variant was unreported previously. Sanger sequencing verified that the variant was de novo in origin. Based on the ACMG guidelines, the variant was classified as pathogenic (PM1+PS2_Moderate+PP2+PP3_Strong+PM2_Supporting). In total seven relevant articles were retrieved. Together with our case, a total of 10 male RTT patients were included for the analysis of clinical manifestations and genetic etiology.
CONCLUSION: The heterozygous c.761A>G (p.Tyr254Cys) variant of the FOXG1 gene probably underlay the pathogenesis of male RTT in this patient. Above finding has enriched the mutational spectrum of the FOXG1 gene and facilitated understanding of the genotype-phenotype correlation of congenital variant RTT.