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Abstract：
UNASSIGNED: To explore the genetic defects of a Chinese family with complete Schubert-Bornschein type congenital stationary night blindness (CSNB).
UNASSIGNED: A Chinese family with complete Schubert-Bornschein type CSNB was enrolled in this study. The detailed ocular presentations of the patient were recorded. Targeted gene sequencing including 156 genes related to retinal diseases was used to detect the gene mutation. Sanger sequencing was performed to validate the potential pathogenic variants, and segregation analysis was performed on all available family members. Bioinformatics analysis was performed to predict the impact of the mutations.
UNASSIGNED: By targeted gene sequencing and Sanger sequencing, we identified compound heterozygous mutations in GRM6: c.152G>T (p.Gly51Val) and c.727delG (p.Val243SerfsX21). Segregation analysis demonstrated that the mother of the proband carried the missense mutation (c.152G>T) while her father carried the frameshift mutation (c.727delG), indicating CSNB was autosomal recessively inherited in this family. Several bioinformatics prediction programs revealed the mutations were \"Damaging\" or \"Disease Causing\" and conservation analysis showed both the codons Gly51 and Val243 were highly conserved among species, suggesting the changes were pathogenic.
UNASSIGNED: By targeted gene sequencing and Sanger sequencing, we detected compound heterozygous mutations (c.152G>T, p.Gly51Val and c.727delG, p.Val243SerfsX21) in GRM6. The mutations co-segregated with the phenotype of the family members and are considered to be responsible for complete Schubert-Bornschein type CSNB. However, functional experiments in the future are needed to confirm the pathogenicity of the variants and to elucidate their exact molecular mechanisms causing CSNB.
UNASSIGNED: A Chinese family with complete Schubert-Bornschein type CSNB was enrolled in this study. The detailed ocular presentations of the patient were recorded. Targeted gene sequencing including 156 genes related to retinal diseases was used to detect the gene mutation. Sanger sequencing was performed to validate the potential pathogenic variants, and segregation analysis was performed on all available family members. Bioinformatics analysis was performed to predict the impact of the mutations.
UNASSIGNED: By targeted gene sequencing and Sanger sequencing, we identified compound heterozygous mutations in GRM6: c.152G>T (p.Gly51Val) and c.727delG (p.Val243SerfsX21). Segregation analysis demonstrated that the mother of the proband carried the missense mutation (c.152G>T) while her father carried the frameshift mutation (c.727delG), indicating CSNB was autosomal recessively inherited in this family. Several bioinformatics prediction programs revealed the mutations were \"Damaging\" or \"Disease Causing\" and conservation analysis showed both the codons Gly51 and Val243 were highly conserved among species, suggesting the changes were pathogenic.
UNASSIGNED: By targeted gene sequencing and Sanger sequencing, we detected compound heterozygous mutations (c.152G>T, p.Gly51Val and c.727delG, p.Val243SerfsX21) in GRM6. The mutations co-segregated with the phenotype of the family members and are considered to be responsible for complete Schubert-Bornschein type CSNB. However, functional experiments in the future are needed to confirm the pathogenicity of the variants and to elucidate their exact molecular mechanisms causing CSNB.
摘要：
■探讨一个完全Schubert-Bornschein型先天性静止性夜盲症（CSNB）中国家庭的遗传缺陷。
■一个完全Schubert-Bornschein型CSNB的中国家庭被纳入本研究。记录患者的详细眼部表现。采用包含156个与视网膜疾病相关基因的靶向基因测序来检测基因突变。进行Sanger测序以验证潜在的致病变异，并对所有可用的家庭成员进行隔离分析。进行生物信息学分析以预测突变的影响。
■通过靶向基因测序和Sanger测序，我们鉴定了GRM6中的复合杂合突变：c.152G>T（p。Gly51Val）和c.727delG（p。Val243SerfsX21）。分离分析表明，先证者的母亲携带错义突变（c.152G>T），而她的父亲携带移码突变（c.727delG），表明CSNB在该家族中是常染色体隐性遗传。一些生物信息学预测程序显示突变是“损害”或“引起疾病”，保守性分析表明两个密码子Gly51和Val243在物种之间高度保守，提示这些变化是致病的。
■通过靶向基因测序和Sanger测序，我们检测到复合杂合突变(c.152G>T，p.Gly51Valandc.727delG,p.Val243SerfsX21)在GRM6中。突变与家族成员的表型共分离，被认为是完全Schubert-Bornschein型CSNB的原因。然而,将来需要进行功能实验以确认变体的致病性并阐明其引起CSNB的确切分子机制。
■一个完全Schubert-Bornschein型CSNB的中国家庭被纳入本研究。记录患者的详细眼部表现。采用包含156个与视网膜疾病相关基因的靶向基因测序来检测基因突变。进行Sanger测序以验证潜在的致病变异，并对所有可用的家庭成员进行隔离分析。进行生物信息学分析以预测突变的影响。
■通过靶向基因测序和Sanger测序，我们鉴定了GRM6中的复合杂合突变：c.152G>T（p。Gly51Val）和c.727delG（p。Val243SerfsX21）。分离分析表明，先证者的母亲携带错义突变（c.152G>T），而她的父亲携带移码突变（c.727delG），表明CSNB在该家族中是常染色体隐性遗传。一些生物信息学预测程序显示突变是“损害”或“引起疾病”，保守性分析表明两个密码子Gly51和Val243在物种之间高度保守，提示这些变化是致病的。
■通过靶向基因测序和Sanger测序，我们检测到复合杂合突变(c.152G>T，p.Gly51Valandc.727delG,p.Val243SerfsX21)在GRM6中。突变与家族成员的表型共分离，被认为是完全Schubert-Bornschein型CSNB的原因。然而,将来需要进行功能实验以确认变体的致病性并阐明其引起CSNB的确切分子机制。
