Walter Ha Kahr

Publications (2)37.92 Total impact

• Article: Interstitial deletion of 11q-implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome.

  Andrea Guerin, Dimitri J Stavropoulos, Yaser Diab, Sébastien Chénier, Hilary Christensen, Walter Ha Kahr, Riyana Babul-Hirji, David Chitayat
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  ABSTRACT: Jacobsen syndrome (JS) is a rare contiguous gene disorder characterized by a deletion within the distal part of the long arm of chromosome 11 ranging in size from 7 to 20 Mb. The clinical findings include characteristic dysmorphic features, growth and psychomotor delays and developmental anomalies involving the brain, eyes, heart, kidneys, immune, hematologic, endocrine, and gastrointestinal systems. The majority of cases are due to a terminal deletion of 11q; however interstitial deletions have also been reported. We report on a child with clinical manifestations consistent with JS who had a 2.899 Mb interstitial deletion at 11q24.2-q24.3 which is the smallest interstitial deletion reported so far to our knowledge. This deletion includes the KIRREL3 gene, and given our patient's history of neurocognitive delay and autism spectrum disorder, it raises the possibility that this gene is a candidate for the social and expressive language delay observed in our patient. © 2012 Wiley Periodicals, Inc.
  American Journal of Medical Genetics Part A 09/2012; 158A(10):2551-6. · 2.39 Impact Factor
• Article: Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome.

  Walter H A Kahr, Jesse Hinckley, Ling Li, Hansjörg Schwertz, Hilary Christensen, Jesse W Rowley, Fred G Pluthero, Denisa Urban, Shay Fabbro, Brie Nixon, [......], Mike Storck, Kai Wang, Gi-Yung Ryu, Shawn M Jobe, Brian C Schutte, Jack Moseley, Noeleen B Loughran, John Parkinson, Andrew S Weyrich, Jorge Di Paola
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  ABSTRACT: Next-generation RNA sequence analysis of platelets from an individual with autosomal recessive gray platelet syndrome (GPS, MIM139090) detected abnormal transcript reads, including intron retention, mapping to NBEAL2 (encoding neurobeachin-like 2). Genomic DNA sequencing confirmed mutations in NBEAL2 as the genetic cause of GPS. NBEAL2 encodes a protein containing a BEACH domain that is predicted to be involved in vesicular trafficking and may be critical for the development of platelet α-granules.
  Nature Genetics 01/2011; 43(8):738-40. · 35.53 Impact Factor