A 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) provided an early clue and the finding of ZNF469 mutations in BCS proved that BCS is indeed a distinct disorder albeit with overlapping phenotype (1–3). In this communication, we report the results of the molecular characterization of a BCS patient which led to the identification of a new genetic lesion. Patient 1 is a 2-year-old Saudi girl with blue sclerae and keratoconus. Her parents are healthy first cousins and she has a healthy brother. Her development has been appropriate and her past medical history was negative for fractures or delayed healing. She had normal growth parameters, Stickler-like flat face, blue sclerae and Beighton score of 4 (Fig. 1). Skin displayed