Large heterozygous deletion and uniparental disomy masquerading as homozygosity in CHKB gene.

ABSTRACT:

Background

CHKB mutations have been described in 49 patients with megaconial congenital muscular dystrophy, which is a rare autosomal recessive disorder, of which 40 patients showed homozygosity.

Methods

Peripheral blood genomic DNA samples were extracted from patients and their parents and were tested by whole exome sequencing. Quantitative PCR was performed to detect deletion. Single nucleotide polymorphism analysis was performed to identify uniparental disomy. Quantitative PCR and western blot were used to measure the expression level of CHKB in patient 1-derived immortalized lymphocytes. Mitochondria were observed in lymphocytes by electron microscopy.

Results

Two unrelated cases born to non-consanguineous parents were diagnosed with megaconial congenital muscular

SUBMITTER: Wu T 

PROVIDER: S-EPMC10337282 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature