Whole Exome Sequencing in Thai Patients With Retinitis Pigmentosa Reveals Novel Mutations in Six Genes

Abstract

This is the first report of mutations in Thai RP patients. These findings are useful for genotype-phenotype comparisons among different ethnic groups.

NovelC8orf37Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia

“…14,15 In 2012, Estrada-Cuzcano and colleagues characterized the C8orf37 gene and identified C8orf37 mutations by searching a region of chromosome 8 linked to patients with autosomal recessive early to adolescent-onset retinal dystrophies (arRP and arCRD) in four families. 14 Subsequently, the same group (van Huet and co-authors) reported the patients' clinical features in the four families, revealing that the disease progression rate was high in all patients with C8orf37 mutations.…”

“…16 Another group also showed an adolescent-onset RP phenotype with macular atrophy caused by C8orf37 mutations in one family. 15 The phenotypic characteristics of C8orf37 mutations are severely constricted visual fields, retinal degeneration with macular atrophy, and non-recordable responses in both rod and cone ERG. 16 Thus, the ophthalmic findings resulting from C8orf37 mutations are similar between patients.…”

“…17,18 Previous studies have reported that mutations in the C8orf37 gene, which encodes a ciliary protein, cause both syndromic and non-syndromic retinal ciliopathies. [14][15][16]19 In fact, the majority of RP or CRD patients exhibited nonsyndromic retinal ciliopathies, but only two CRD patients in one family had postaxial polydactyly as extraocular symptoms. [14][15][16] In our patients, asthma, psychotic depression, and myoma uteri in patient II-2 and tinnitus in patient II-3 were found.…”

“…[14][15][16]19 In fact, the majority of RP or CRD patients exhibited nonsyndromic retinal ciliopathies, but only two CRD patients in one family had postaxial polydactyly as extraocular symptoms. [14][15][16] In our patients, asthma, psychotic depression, and myoma uteri in patient II-2 and tinnitus in patient II-3 were found. Further investigation will be necessary to clarify possible relationships between C8orf37 mutations and extraocular symptoms.…”

A novelC8orf37splice mutation and genotype-phenotype correlation for cone-rod dystrophy

“…There have been only six previous reports describing C8orf37 mutations, 1,2,[5][6][7][8] and no clear genotype-phenotype correlations have been described so far. The present study examined a consanguineous family of Moroccan origin including two siblings with early-onset CRD.…”