Gene: [0Mh10470/MTND4L] NADH dehydrogenase subunit 4L (mitochondrial); diarrhea, chronic, with villous atrophy (MIM:520100);


PAT

The chronic diarrhea and villous atrophy with onset in the first years of life was described in two unrelated patients (Cormier-Daire-1994). Analysis of the mitochondrial respiratory chain showed a complex III deficiency in muscle of both patients. Southern blot analysis provided evidence of heteroplasmic mitochondrial DNA rearrangements that involved deletion and deletion-duplication. In 1 patient, the deletion extended from nucleotide 10744 in the ND4L gene to nucleotide 14124 in the ND5 gene (GEM:0Mh12337/MTND5). In the other patient, the 4,191-bp deletion extended from 10665 in the ND4L gene to nucleotide 14856 in the cytochrome b gene (GEM:0Mh14747/MTCYB)."

GEN

The gene length: 0.30 kb (297 bp).

REL

GEM:0Mh3307/MTND1

REF

PAT,MUT,ABR "Cormier-Daire V &: J Pediatr, 124, 63-70, 1994

SWI

SWISSPROT: P03901

KEY

mito

CLA

coding, basic

LOC

0M H10470-10766

MIM

MIM: 516004

EZN

ENZYME: 1.6.5.3