Congenital Cataracts and Gut Dysmotility in a DYNC1H1 Dyneinopathy Patient

Genes

Rolf W. Stottmann¹  K. Nicole Weaver¹  Marshall Lukacs¹  Robert B. Hufnagel¹  Rose Gelineau-Morel²  Donald L. Gilbert² 

[1] Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH 45229, USA;Division of Neurology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH 45229, USA;

关键词: dynein;    polymicrogyria;    cortical development;    cataracts;    gut dysmotility;   

DOI  :  10.3390/genes7100085

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown