A De Novo case of autosomal dominant mitochondrial membrane protein-associated neurodegeneration.

ABSTRACT:

Background

Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a genetic neurodegenerative condition previously thought to be inherited only in an autosomal recessive pattern through biallelic pathogenic variants in C19orf12. Recent evidence has proposed that MPAN can also follow autosomal dominant forms of inheritance. We present a case of a de novo pathogenic variant in C19orf12 identified in a female with clinical features consistent with a diagnosis of MPAN, adding further evidence that the disease can be inherited in an autosomal dominant fashion.

Methods

A 17-year-old Hispanic female was born to non-consanguineous healthy parents. She developed progressive muscle weakness and dystonia beginning when she was 12 years old. Trio, whole-exome sequencing w

SUBMITTER: Fraser S 

PROVIDER: S-EPMC8372066 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature