Published: May 5, 2021

Mitochondrial Encephalohepatopathy (MEH) is an autosomal recessive neurodevelopmental disorder usually accompanied by microcephaly, white matter changes, cardiac and hepatic failure. Here, we applied the whole-exome sequencing (WES) framework on a trio family data with unaffected non-consanguineous parents proband (neonate girl) this inherited disorder. A total of 2,928,402 variants were observed 2,613,746 SNPs, 112,336 multiple nucleotide polymorphisms (MNPs), 72,610 insertions, 113,207 deletions 16,503 mixed variants. These variations are responsible for 82,813,631 effects various genomic regions. Our pipeline uncovered candidate gene mutations from these retained handful 5,277 harboring 3,598 genes, out which, 8 genes codes non-coding RNA while 178 those high impact severity. Among variants, 125 de-novo that not previously reported in ClinVar database. Consistent to previous studies, leftover severity involved encephalopathy, Leigh syndrome, Charcot–Marie–Tooth disease, global developmental disorder, seizures, spastic paraplegia, premature ovarian failure, mitochondrial myopathy-cerebellar, ataxia-pigmentary, retinopathy ocular retinal degeneration, deafness, intellectual disability, cardiofacioneurodevelopmental syndrome etc. All clinical features also patient studied. The current analysis highlights expands genetic architecture MEH phenotype. Furthermore, significantly broadens concept its usefulness as first-tier diagnostic method detection complex multisystem phenotypic disorders.

Language: Английский