Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.

doi:10.1016/j.ajhg.2013.07.016

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Article

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.

American journal of human genetics - 5 Sept 2013

Gai Xiaowu, Ghezzi Daniele, Johnson Mark A, Biagosch Caroline A, Shamseldin Hanan E, Haack Tobias B, Reyes Aurelio, Tsukikawa Mai, Sheldon Claire A, Srinivasan Satish, Gorza Matteo, Kremer Laura S, Wieland Thomas, Strom Tim M, Polyak Erzsebet, Place Emily, Consugar Mark, Ostrovsky Julian, Vidoni Sara, Robinson Alan J, Wong Lee-Jun, Sondheimer Neal, Salih Mustafa A, Al-Jishi Emtethal, Raab Christopher P, Bean Charles, Furlan Francesca, Parini Rossella, Lamperti Costanza, Mayr Johannes A, Konstantopoulou Vassiliki, Huemer Martina, Pierce Eric A, Meitinger Thomas, Freisinger Peter, Sperl Wolfgang, Prokisch Holger, Alkuraya Fowzan S, Falk Marni J, Zeviani Massimo

Abstract excerpt

Whole-exome sequencing and autozygosity mapping studies, independently performed in subjects with defective combined mitochondrial OXPHOS-enzyme deficiencies, identified a total of nine disease-segregating FBXL4 mutations in seven unrelated mitochondrial disease families, composed of six singletons and three siblings. All subjects manifested early-onset lactic acidemia, hypotonia, and developmental delay caused...

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PMID: 23993194
DOI: 10.1016/j.ajhg.2013.07.016
PMCID: PMC3769923

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