Molecular genetics & genomic medicine · 2026
Clinical and Genetic Analysis of Pediatric Neurodevelopmental Disorders With Complex Chromosomal Rearrangements in Two Cases.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
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Li Jiaci, Fan Wenxuan, Liu Nan, Zhang Shuyue, Wang Ping, Gu Chunyu, Shu Jianbo
Аннотация
OBJECTIVE: Our study investigates the impact of junction breakpoints of complex chromosomal rearrangements (CCRs) on developmental delay and intermittent epilepsy in children, aiming to elucidate the underlying genetic mechanisms.
METHODS: We reported a patient with developmental delay in family 1, and we reported a patient with intermittent epileptic seizures in family 2. Karyotype analysis was used to detect chromosomal abnormalities. Whole exome sequencing (WES) and/or whole genome sequencing (WGS) can further assist in identifying the genetic etiology.
RESULTS: Our findings revealed a central inversion rearrangement on chromosome 3 affecting the Roundabout Guidance Receptor 1 (ROBO1), DnaJ Heat Shock Protein Family Member C13 (DNAJC13), and Acyl-CoA Dehydrogenase Family Member 11 (ACAD11) genes in patient 1, suggesting its potential pathogenic role in developmental delays. In another patient, we identified a complex rearrangement involving chromosome 1, coupled with a heterozygous mutation in KCNA2 NM_004974.4:c.347A>C (p.Tyr116Ser), indicating a strong association with intermittent seizures.
CONCLUSIONS: Combining chromosome karyotype analysis with WES and/or WGS can accurately locate chromosomal breakpoints and provide more accurate genetic information. It is an important approach for integrated diagnosis.
METHODS: We reported a patient with developmental delay in family 1, and we reported a patient with intermittent epileptic seizures in family 2. Karyotype analysis was used to detect chromosomal abnormalities. Whole exome sequencing (WES) and/or whole genome sequencing (WGS) can further assist in identifying the genetic etiology.
RESULTS: Our findings revealed a central inversion rearrangement on chromosome 3 affecting the Roundabout Guidance Receptor 1 (ROBO1), DnaJ Heat Shock Protein Family Member C13 (DNAJC13), and Acyl-CoA Dehydrogenase Family Member 11 (ACAD11) genes in patient 1, suggesting its potential pathogenic role in developmental delays. In another patient, we identified a complex rearrangement involving chromosome 1, coupled with a heterozygous mutation in KCNA2 NM_004974.4:c.347A>C (p.Tyr116Ser), indicating a strong association with intermittent seizures.
CONCLUSIONS: Combining chromosome karyotype analysis with WES and/or WGS can accurately locate chromosomal breakpoints and provide more accurate genetic information. It is an important approach for integrated diagnosis.