Article
Hypomyelination and congenital cataract: broadening the clinical phenotype.
Archives of neurology - 1 Sept 2011
Biancheri Roberta, Zara Federico, Rossi Andrea, Mathot Mikael, Nassogne Marie Cecile, Yalcinkaya Cengiz, Erturk Ozdem, Tuysuz Behyan, Di Rocco Maja, Gazzerro Elisabetta, Bugiani Marianna, van Spaendonk Resie, Sistermans Erik A, Minetti Carlo, van der Knaap Marjo S, Wolf Nicole I
Abstract excerpt
OBJECTIVE: To further delineate the clinical spectrum of hypomyelination and congenital cataract (HCC), a rare autosomal recessive white matter disorder due to deficiency of a membrane protein, hyccin, encoded by FAM126A. DESIGN: Case reports and literature review. SETTING: University hospital. PATIENTS: Nine additional patients with HCC. RESULTS: Cataract was congenital in 5 patients; it was found at 4, 5, and 7...
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