AI Article Synopsis
- Hypomyelination and congenital cataract is an autosomal recessive disorder affecting white matter, leading to neurological issues and cataracts due to mutations in the DRCTNNB1A gene.
- A significant intragenic deletion was found that did not cause congenital cataracts in all patients within a specific family.
- The clinical observations from five patients suggest that congenital cataract is not a necessary feature for diagnosing this disorder, expanding the understanding of its phenotypes.
Article Abstract
Hypomyelination and congenital cataract is a recently reported autosomal recessive white matter disorder characterized by hypomyelination of the central and peripheral nervous systems, progressive neurological impairment and congenital cataract and caused by mutations in gene DRCTNNB1A. Here we report a large intragenic deletion that does not lead to congenital cataract in all of the patients in an afflicted family. The clinical phenotypes described for five patients broaden the phenotype of the disease and indicate that congenital cataract is not an essential criterion for differential diagnosis.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1038/sj.ejhg.5201935 | DOI Listing |
Publication Analysis
Top Keywords
congenital cataract
16
cataract
5
deletion drctnnb1a
4
drctnnb1a associated
4
associated hypomyelination
4
hypomyelination juvenile
4
juvenile onset
4
onset cataract
4
cataract hypomyelination
4
congenital
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!