Journal of Clinical & Medical Genomics

Kusmierska K

Publications

• Review Article
  Severe Phenotype of De Barsy Syndrome in Two Siblings with Novel Mutations in the ALDH18A1 Gene
  Author(s): Smigiel R, Kusmierska K, Pollak A, Szmyd K, Kosinska J, Polawski T, Kostrzewa G, Sasiadek MM and Ploski RSmigiel R, Kusmierska K, Pollak A, Szmyd K, Kosinska J, Polawski T, Kostrzewa G, Sasiadek MM and Ploski R
  
  De Barsy syndrome is a rare autosomal recessive genetic disorder characterized by growth retardation, intellectual disability, a prematurely-aged appearance (progeroid features) and loose skin (cutis laxa) as well as eye abnormalities and others. Some cases of de Barsy syndrome have been linked with mutations PYCR1 or ALDH18A1. We describe a family with two siblings with clinically severe de Barsy syndrome in whom two novel mutations in ALDH18A1 (p.Glu100* and p.Arg724His) were found by clinical exome sequencing using TruSight One panel. The p.Glu100* is a novel mutation predicted to cause absence of the protein. The p.Arg724His has been found with low frequency (0.000016) but not in association with human disease; it has been scored as pathogenic by CADD, MetaSVM, Polyphen2, MutationAssessor, SIFT and MutationTaster. The level of ammonia in serum was determ.. Read More»
  DOI: 10.4172/2472-128X.1000145

  Abstract PDF