title: A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract.
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.
authors.affiliation: Department of Molecular Biology and Genetics, Boğaziçi University, Istanbul, Turkey.
authors.forename: Sibel Aylin
authors.initials: SA
authors.lastname: Ugur
authors.forename: Aslihan
authors.initials: A
authors.lastname: Tolun
mesh_terms: D000293:Adolescent; D000595:Amino Acid Sequence; D001483:Base Sequence; D002386:Cataract / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009186:Myelin Sheath / Q000235:genetics* / Q000473:pathology*; D010375:Pedigree; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C412048:HYCC1 protein, human