Brittle cornea, blue sclera, and red hair syndrome (the brittle cornea syndrome).
نویسندگان
چکیده
A syndrome of red hair, blue sclera, and brittle cornea with recurrent spontaneous perforations is presented in 2 siblings of a Tunisian Jewish family. The genetic transmission of this disorder is autosomal recessive. This is the second description of this syndrome, which should be called the 'brittle cornea syndrome'. This syndrome has so far been reported only in Tunisian Jewish families.
منابع مشابه
Mapping of a gene causing brittle cornea syndrome in Tunisian jews to 16q24.
PURPOSE To map the gene that causes brittle cornea syndrome (BCS). METHODS Five patients from four families, all of Jewish Tunisian origin, were recruited into the study. Four of the five patients had red hair. DNA from the five patients and 104 control chromosomes was typed with seven 16q polymorphic markers surrounding the hair color gene, MC1R. RESULTS A common haplotype in the homozygou...
متن کاملA novel mutation in PRDM5 in brittle cornea syndrome.
To the Editor : Brittle cornea syndrome (BCS) (MIM229200) is an autosomal recessive disorder characterized by abnormally fragile cornea that can easily rupture. It was debated whether BCS is a distinct disorder or a subtype of Ehler-Danlos syndrome (EDS VI specifically) (1). However, the demonstration of normal lysylpyridinoline to total hydroxylysylpyridinoline (typically abnormal in EDS VI) p...
متن کاملEnrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.
Keratoconus, a common inherited ocular disorder resulting in progressive corneal thinning, is the leading indication for corneal transplantation in the developed world. Genome-wide association studies have identified common SNPs 100 kb upstream of ZNF469 strongly associated with corneal thickness. Homozygous mutations in ZNF469 and PR domain-containing protein 5 (PRDM5) genes result in brittle ...
متن کاملBrittle Cornea Syndrome: Case Report with Novel Mutation in the PRDM5 Gene and Review of the Literature
A 3-year-old boy presented with acute corneal hydrops on the left eye and spontaneous corneal rupture on the right eye. A diagnosis of brittle cornea syndrome was confirmed by molecular analysis. A novel mutation, the homozygous variant c.17T>G, p.V6G, was found in the gene for PR-domain-containing protein 5 (PRDM5) in exon 1. Brittle cornea syndrome is a rare connective tissue disease with typ...
متن کاملBrittle cornea syndrome ZNF469 mutation carrier phenotype and segregation analysis of rare ZNF469 variants in familial keratoconus.
PURPOSE Brittle cornea syndrome 1 (BCS1) is a rare recessive condition characterized by extreme thinning of the cornea and sclera, caused by mutations in ZNF469. Keratoconus is a relatively common disease characterized by progressive thinning and ectasia of the cornea. The etiology of keratoconus is complex and not yet understood, but rare ZNF469 variants have recently been associated with dise...
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عنوان ژورنال:
- The British journal of ophthalmology
دوره 64 3 شماره
صفحات -
تاریخ انتشار 1980