Retinal Dystrophy Due to Paternal Isodisomy for Chromosome 1 or Chromosome 2, with Homoallelism for Mutations in RPE65 or MERTK, Respectively

Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy.

Donnai-Barrow syndrome [Faciooculoacousticorenal (FOAR) syndrome; DBS/FOAR] is a rare autosomal recessive disorder resulting from mutations in the LRP2 gene located on chromosome 2q31.1. We report a unique DBS/FOAR patient homozygous for a 4-bp LRP2 deletion secondary to paternal uniparental isodisomy for chromosome 2. The propositus inherited the mutation from his heterozygous carrier father, ...

Non-pathological paternal isodisomy of chromosome 2 detected from a genome-wide SNP scan.

Non-Pathological Paternal Isodisomy of Chromosome 2 Detected From a Genome-Wide SNP Scan Matthew C. Keller,* Allan F. McRae, Julie M. McGaughran, Peter M. Visscher, Nicholas G. Martin, and Grant W. Montgomery Department of Psychology, University of Colorado at Boulder, Colorado Institute for Behavioral Genetics, University of Colorado at Boulder, Colorado Queensland Institute of Medical Researc...

Clonal origin of the Philadelphia chromosome from either the paternal or the maternal chromosome number 22.

Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy

PURPOSE To identify pathogenic mutations responsible for retinal dystrophy in three consanguineous Pakistani families. METHODS A thorough ophthalmic examination including fundus examination and electroretinography was performed, and blood samples were collected from all participating members. Genomic DNA was extracted, and genome-wide linkage and/or exclusion analyses were completed with fluo...

LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy

Fatty acid oxidation disorders and lipin-1 deficiency are the commonest genetic causes of rhabdomyolysis in children. We describe a lipin-1-deficient boy with recurrent, severe rhabdomyolytic episodes from the age of 4 years. Analysis of the LPIN1 gene that encodes lipin-1 revealed a novel homozygous frameshift mutation in exon 9, c.1381delC (p.Leu461SerfsX47), and complete uniparental isodisom...