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.
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Zara F, Biancheri R, Bruno C et al.: Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract. Nat Genet 2006; 38: 1111–1113.
Weber JL, Broman KW : Genotyping for human whole-genome scans: past, present, and future. Adv Genet 2001; 42: 77–96.
Acknowledgements
We thank the family for participating in the study. This work was supported by the Turkish State Planning Organization. A Tolun was partially supported by the Turkish Academy of Sciences. SA Ugur was a fellow of the Scientific and Technological Research Council of Turkey. We gratefully acknowledge the genome scan for the family performed by NHLBI Mammalian Genotyping Service (Contract Number HV48141).
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Accession numbers and URLs for data presented herein are as follows:
Marshfield Institute, http://research.marshfieldclinic.org/genetics/
(http://research.marshfieldclinic.org/genetics/Genotyping_Service/mgsver2.htm)
GenBank, http://www.ncbi.nlm.nih.gov/Genbank/ (for sequences from human [accession numbers NM_032581.2 and NP_115970.2])
NCBI Map Viewer, http://www.ncbi.nlm.nih.gov/mapview/
Supplementary Information accompanies the paper on European Journal of Human Genetics website (http://www.nature.com/ejhg)
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Ugur, S., Tolun, A. A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract. Eur J Hum Genet 16, 261–264 (2008). https://doi.org/10.1038/sj.ejhg.5201935
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DOI: https://doi.org/10.1038/sj.ejhg.5201935
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