Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype.

ABSTRACT:

Background

TTC19 deficiency is a progressive neurodegenerative disease associated with isolated mitochondrial respiratory chain (MRC) complex III deficiency and loss-of-function mutations in the TT19 gene in the few patients reported so far.

Methods

We performed exome sequencing and selective mutational analysis of TTC19, respectively, in patients from three unrelated families presenting with initially unspecific clinical signs of muscular hypotonia and global developmental delay followed by regression, ataxia, loss of speech, and rapid neurological deterioration. One patient showed severe lactic acidosis at the neonatal age and during intercurrent illness.

Results

We identified homozygous mutations in all three index cases, in two families novel missense mutations (c

SUBMITTER: Koch J 

PROVIDER: S-EPMC4422538 | biostudies-literature | 2015 Apr

REPOSITORIES: biostudies-literature