Medicine · 2025
A novel DCC truncating mutation leads to rare congenital mirror movements and corpus callosum agenesis: A case report.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
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Cao Gao-Hui, Zhang Ai-Qian, Dong Yi, Fan Liang-Liang, Yin Jian-Yin, Tang Lu-Lu, Li Ya-Li
Аннотация
ABSTRACTRATIONALE: Mirror movements (MRMVs) are quite common in young children and typically diminish before the age of 10. However, congenital MRMVs often persist into adulthood. MRMV1 is a rare neurodevelopmental disorder characterized by involuntary movements mirroring intentional actions on the opposite side of the body. Recent research has confirmed an intrinsic connection between congenital agenesis of the corpus callosum (ACC) and MRMV1, which is associated with mutations in the deleted in colorectal carcinoma (DCC) gene.
PATIENT CONCERNS: The proband was a fetus, which was prenatally diagnosed with congenital ACC; multiple adult males in the proband's family were affected by MRMVs.
DIAGNOSES: The fetus had congenital ACC, and the affected adult males in the family had MRMV1 (congenital mirror movement disorder type 1).
INTERVENTIONS: Genomic analysis was conducted, including whole-exome sequencing and Sanger sequencing. Given that the proband's family jointly opted for abortion, no other interventions were employed.
OUTCOMES: A novel severe mutation in DCC (NM_0005215.3, c.1789C > T/p.Arg597*) was discovered, predicted to be a deleterious mutation through bioinformatics analysis. Sanger sequencing confirmed the segregation of the DCC mutation with the disease phenotype, establishing it as the cause of the familial genetic anomaly.
LESSONS: These findings expand the spectrum of DCC mutations associated with MRMV1 and ACC, contributing to genetic counseling and prenatal diagnosis for MRMV patients, and shedding light on the role of DCC in neurodevelopment.
PATIENT CONCERNS: The proband was a fetus, which was prenatally diagnosed with congenital ACC; multiple adult males in the proband's family were affected by MRMVs.
DIAGNOSES: The fetus had congenital ACC, and the affected adult males in the family had MRMV1 (congenital mirror movement disorder type 1).
INTERVENTIONS: Genomic analysis was conducted, including whole-exome sequencing and Sanger sequencing. Given that the proband's family jointly opted for abortion, no other interventions were employed.
OUTCOMES: A novel severe mutation in DCC (NM_0005215.3, c.1789C > T/p.Arg597*) was discovered, predicted to be a deleterious mutation through bioinformatics analysis. Sanger sequencing confirmed the segregation of the DCC mutation with the disease phenotype, establishing it as the cause of the familial genetic anomaly.
LESSONS: These findings expand the spectrum of DCC mutations associated with MRMV1 and ACC, contributing to genetic counseling and prenatal diagnosis for MRMV patients, and shedding light on the role of DCC in neurodevelopment.