Genotype and Phenotype in an unusual form of Laurence–Moon–Bardet–Biedl syndrome

using clinical genome sequencing. The Complete Genomics (California, USA) platform was used, and bioinformatics analysis was performed using the Complete Genomics pipeline (v2.5) (Carnevali et al. 2012). After excluding mutations in known glaucoma-associated genes, we focused on the 13q32 region, where an autosomal-dominant microcoria gene has been mapped (Fares-Taie et al. 2015).Aheterozygous 69-kb deletion (chr13:9521928395288376) encompassing the entire TGDS andGPR180 genes was detected. The presence and extent of the deletion were confirmed through Sanger sequencing of the deletion breakpoints. A family with early-onset glaucoma and microcoria, in which genome sequencing identified a large genomic deletion, is reported. It is evident from previous studies that individuals with congenital microcoria are at risk of developing ocular hypertension (Toulemont et al. 1995; Tawara et al. 2005; Fares-Taie et al. 2015). This rarely occurs before the end of the second decade of life, but at least one in three microcoria patients are going to require treatment for glaucoma (Toulemont et al. 1995). It can be speculated that glaucoma in these cases is associated with the iridocorneal angle abnormalities. However, the gonioscopic appearance in the proband of this study was similar to that of his older sister who has microcoria without any signs of glaucoma at age 44. Similar findings have been previously reported (Toulemont et al. 1995) suggesting that the significance of the angle dysgenesis is unclear. Sequencing of the entire genome for clinical applications has now entered medical practice (Biesecker & Green 2014). The rapid identification of the disease-causing Deoxyribonucleic acid (DNA) sequence alteration in the presented case clearly demonstrates the potential of this approach in the diagnostics of developmental eye disorders.