未经批准:遗传性眼病,影响大约1000人中的一人,包括一组导致严重视力缺陷的疾病。最近采用的下一代测序技术,包括全外显子组测序(WES),在医学上大大提高了遗传异质性疾病的诊断率。
UNASSIGNED:本研究的目的是评估疑似遗传性眼病的墨西哥人群中WES的诊断率,并通过重新分析WES数据来评估诊断率的提高。没有初步分子诊断的患者。
未经证实:总共确定了90名有疑似遗传起源的眼部异常的先证者。患者在白细胞DNA中接受WES。生物信息学分析和Sanger测序用于确认致病变异。只有被鉴定为致病性或可能致病性的变体被认为是因果关系。
UNASSIGNED:初步分析显示46例(51%)发生因果突变。首次分析后12个月对WES数据进行重新分析,结果发现6例患者(7%)中的其他因果变异。将分子诊断产率提高到58%。按疾病类别划分的最高诊断率对应于遗传性视网膜营养不良(77%)和眼前节异常(47%)。
UNASSIGNED:我们的研究表明,WES是遗传性眼病遗传诊断的有效方法,重新分析WES数据可以提高诊断率。
UNASSIGNED: Genetic eye disorders, affecting around one in 1000 people, encompass a diverse group of diseases causing severe visual deficiency. The recent adoption of next-generation sequencing techniques, including whole-exome sequencing (WES), in medicine has greatly enhanced diagnostic rates of genetically heterogeneous diseases.
UNASSIGNED: The objectives of the study were to assess the diagnostic yield of WES in a cohort of Mexican individuals with suspected genetic eye disorders and to evaluate the improvement of diagnostic rates by reanalysis of WES data in patients without an initial molecular diagnosis.
UNASSIGNED: A total of 90 probands with ocular anomalies of suspected genetic origin were ascertained. Patients underwent WES in leukocytic DNA. Bioinformatics analysis and Sanger sequencing were used to confirm the disease-causing variants. Only variants identified as pathogenic or likely pathogenic were considered as causal.
UNASSIGNED: Initial analysis revealed causal mutations in 46 cases (51%). Reanalysis of WES data 12 months after first analysis resulted in the identification of additional causal variants in 6 patients (7%), increasing the molecular diagnostic yield to 58%. The highest diagnostic rates by disease categories corresponded to hereditary retinal dystrophies (77%) and to anomalies of the anterior segment of the eye (47%).
UNASSIGNED: Our study demonstrates that WES is an effective approach for genetic diagnosis of genetic ocular diseases and that reanalysis of WES data can improve the diagnostic yield.