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Genes 2016, 7(10), 85; doi:10.3390/genes7100085

Congenital Cataracts and Gut Dysmotility in a DYNC1H1 Dyneinopathy Patient

1
Division of Neurology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH 45229, USA
2
Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH 45229, USA
3
Division of Developmental Biology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH 45229, USA
These authors contributed equally to this work.
*
Author to whom correspondence should be addressed.
Academic Editor: Roel Ophoff
Received: 4 May 2016 / Revised: 20 September 2016 / Accepted: 7 October 2016 / Published: 14 October 2016
(This article belongs to the Section Human Genetics and Genomics)
View Full-Text   |   Download PDF [1169 KB, uploaded 14 October 2016]   |  

Abstract

Whole exome sequencing continues to end the diagnostic odyssey for a number of patients and expands our knowledge of phenotypes associated with gene mutations. We describe an 11-year-old female patient with a constellation of symptoms including congenital cataracts, gut dysmotility, sensory neuropathy, and bifrontal polymicrogyria. Whole exome sequencing was performed and identified a de novo heterozygous missense mutation in the ATPase motor domain of cytoplasmic dynein heavy chain 1 (DYNC1H1), which is known to be involved in neuronal migration and retrograde axonal transport. The mutation was found to be highly damaging by multiple prediction programs. The residue is highly conserved, and reported mutations in this gene result in a variety of phenotypes similar to that of our patient. We report only the second case of congenital cataracts and the first of gut dysmotility in a patient with DYNC1H1, thus expanding the spectrum of disease seen in DYNC1H1 dyneinopathies. View Full-Text
Keywords: dynein; polymicrogyria; cortical development; cataracts; gut dysmotility dynein; polymicrogyria; cortical development; cataracts; gut dysmotility
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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MDPI and ACS Style

Gelineau-Morel, R.; Lukacs, M.; Weaver, K.N.; Hufnagel, R.B.; Gilbert, D.L.; Stottmann, R.W. Congenital Cataracts and Gut Dysmotility in a DYNC1H1 Dyneinopathy Patient. Genes 2016, 7, 85.

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