A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12526
Abstract: Mitochondrial complex V plays an important role in oxidative phosphorylation by catalyzing the generation of ATP. Most complex V subunits are nuclear encoded and not yet associated with recognized Mendelian disorders. Using exome sequencing, we… read more here.
Keywords: mitochondrial complex; variant atp5po; homozygous splice; atp5po ... See more keywords
A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation
Sign Up to like & getrecommendations! Published in 2017 at "Movement Disorders"
DOI: 10.1002/mds.26922
Abstract: PD patients treated with STN-DBS and LCIG, worsening activities of daily living by threefold after adjusting for cognitive impairment, age, and motor severity. Importantly, both symptomatic and asymptomatic orthostatic hypotension impaired ADL/iADL to a similar… read more here.
Keywords: neurodegeneration brain; mimicking neurodegeneration; ap4s1 mimicking; variant ap4s1 ... See more keywords
Identification and characterization of a novel homozygous splice site variant of PATL2 causing female infertility due to oocyte germinal vesicle arrest
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.967288
Abstract: Background: This study aims to describe clinical and diagnostic phenotype and identify pathogenic variants of a female with unknown causes of infertility. Methods: Clinical assessment was performed for the phenotype diagnosis. Whole-exome sequencing (WES) and… read more here.
Keywords: splice site; patl2; homozygous splice; infertility ... See more keywords