Article
Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.
Molecular genetics and metabolism - 1 Dec 2012
Haudry Coralie, de Lonlay Pascale, Malan Valerie, Bole-Feysot Christine, Assouline Zahra, Pruvost Solenn, Brassier Anais, Bonnefont Jean-Paul, Munnich Arnold, Rötig Agnès, Lebre Anne-Sophie
Abstract excerpt
We report maternal uniparental disomy of chromosome 2 (matUPD2) in a 9-month-old girl presenting with hepatocerebral mitochondrial DNA depletion syndrome. This patient was homozygous for the c.352C>T (p.Arg118Cys) mutation in DGUOK gene. The proband's mother was heterozygous for the mutation was absent in DNA of the father. For proband, the absence of paternal contribution at the DGUOK locus prompted us to...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.