Article
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.
American journal of human genetics - 5 Feb 2015
Wortmann Saskia B, Ziętkiewicz Szymon, Kousi Maria, Szklarczyk Radek, Haack Tobias B, Gersting Søren W, Muntau Ania C, Rakovic Aleksandar, Renkema G Herma, Rodenburg Richard J, Strom Tim M, Meitinger Thomas, Rubio-Gozalbo M Estela, Chrusciel Elzbieta, Distelmaier Felix, Golzio Christelle, Jansen Joop H, van Karnebeek Clara, Lillquist Yolanda, Lücke Thomas, Õunap Katrin, Zordania Riina, Yaplito-Lee Joy, van Bokhoven Hans, Spelbrink Johannes N, Vaz Frédéric M, Pras-Raves Mia, Ploski Rafal, Pronicka Ewa, Klein Christine, Willemsen Michel A A P, de Brouwer Arjan P M, Prokisch Holger, Katsanis Nicholas, Wevers Ron A
Abstract excerpt
We studied a group of individuals with elevated urinary excretion of 3-methylglutaconic acid, neutropenia that can develop into leukemia, a neurological phenotype ranging from nonprogressive intellectual disability to a prenatal encephalopathy with progressive brain atrophy, movement disorder, cataracts, and early death. Exome sequencing of two unrelated individuals and subsequent Sanger sequencing of 16...
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