Author:

Keywords:

Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, Van den Ende-Gupta syndrome, sclerocornea, SCARF2, SCARF1, 22Q11.2 DELETION SYNDROME, CONGENITAL CONTRACTURES, CLINICAL DELINEATION, BLEPHAROPHIMOSIS, ABNORMALITIES, Abnormalities, Multiple, Adult, Arachnodactyly, Blepharophimosis, Bone and Bones, Chromosomes, Human, Pair 22, Contracture, Cornea, Corneal Diseases, Exons, Facies, Hand Deformities, Congenital, Homozygote, Humans, Male, Phenotype, Radiography, Scavenger Receptors, Class F, Sequence Analysis, DNA, Sequence Deletion, Young Adult, 0604 Genetics, 1103 Clinical Sciences, 3105 Genetics, 3202 Clinical sciences

Abstract:

Van den Ende-Gupta Syndrome (VDEGS) is an autosomal recessive disorder characterized by blepharophimosis, distinctive nose, hypoplastic maxilla, and skeletal abnormalities. Using homozygosity mapping in four VDEGS patients from three consanguineous families, Anastacio et al. [Anastacio et al. (2010); Am J Hum Genet 87:553-559] identified homozygous mutations in SCARF2, located at 22q11.2. Bedeschi et al. [2010] described a VDEGS patient with sclerocornea and cataracts with compound heterozygosity for the common 22q11.2 microdeletion and a hemizygous SCARF2 mutation. Because sclerocornea had been described in DiGeorge-velo-cardio-facial syndrome but not in VDEGS, they suggested that the ocular abnormalities were caused by the 22q11.2 microdeletion. We report on a 23-year-old male who presented with bilateral sclerocornea and the VDGEGS phenotype who was subsequently found to be homozygous for a 17 bp deletion in exon 4 of SCARF2. The occurrence of bilateral sclerocornea in our patient together with that of Bedeschi et al., suggests that the full VDEGS phenotype may include sclerocornea resulting from homozygosity or compound heterozygosity for loss of function variants in SCARF2. © 2014 Wiley Periodicals, Inc.