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This research contributed to the genetic assessment and guidance for two families affected by Charcot–Marie–Tooth disease, reinforcing the notion that MORC2 is a potential causative gene for CMT2Z.
A rare compound heterozygous mutation in the NPHP4 gene is identified by employing whole exome sequencing and Sanger sequencing and contributes to the precise diagnosis of the patient and underscores the utility of genetic testing in the accurate diagnosis of NPHP.
This study may expand the mutation and phenotypic spectrum of SETD1A-related disorders, establishing the relationship between SETD1A variants and isolated early-onset epilepsy without accompanying severe neurodevelopmental deficits, and highlighting the value of genetic testing in infants with unexplained epilepsy.
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