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PRPH2 mutation as the cause of various clinical manifestations in a family affected with inherited retinal dystrophy

机译：PRPH2突变作为遗传性视网膜营养不良的家庭中各种临床表现的原因

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Background/Objectives: To reveal the underlying genetic defect in a complex family affected with different clinical features of inherited retinal dystrophy, we carried out whole exome sequencing followed by confirmatory molecular tests. Materials and Methods: Complete ophthalmic examinations were performed for available affected family members. Whole exome sequencing, bioinformatics analysis, Sanger sequencing confirmation, and segregation analysis were done to identify the causative mutation. Results: Clinical findings suggested fundus flavimaculatus as an early clinical feature progressing to an extensive chorioretinal atrophy involving the macula and mid-periphery of the fundus in one parent and central areolar chorioretinal dystrophy (CACD) as the most probable clinical diagnosis in another parent. Macular pattern dystrophy for one of their daughters and a Leber congenital amaurosis (LCA) like phenotype for the daughter with an early onset retinal dystrophy (EORD) phenotype was suggested. We found a known pathogenic nonsense variation in the PRPH2 gene (NM_000322: p.Gln239Ter). The parents with end stage fundus flavimaculatus and CACD diagnosis and their daughter with macular pattern dystrophy were heterozygous for the identified variant. The daughter affected with EORD/LCA like retinal dystrophy was homozygous for the same variation. Conclusions: In this family, the same pathogenic variant in PRPH2 gene showed a wide range of clinical features of extensive chorioretinal macular atrophy with flecks as fundus falvimaculatus to CACD and macular pattern dystrophy in the heterozygous inheritance pattern and early onset/LCA like retinal dystrophy in the patient who was homozygous for the causative variant.
机译：背景/目标：为了揭示患有遗传性视网膜营养不良症的不同临床特征的复杂家族中的潜在遗传缺陷，我们进行了全面的exome测序，然后进行了确认的分子试验。材料和方法：为可用受影响的家庭成员进行完整的眼科检查。完成全外壳测序，生物信息学分析，桑格测序确认和分离分析以鉴定致病性突变。结果：临床调查结果表明黄斑狼属植物的早期临床特征，进展到一个父母和中枢性胆小血管营养不良症（CACD）作为另一家父母中最可能的临床诊断。提出了一种女儿之一的黄斑样式营养不良，并提出了具有早期发病视网膜营养不良（EORD）表型的女儿的表型的Leber先天性生物症（LCA）。我们发现PRPH2基因中已知的致病性无意义（NM_000322：P.GLN239T）。患有末期阶段的Flavimaculatus和CACD诊断的父母及其女儿具有黄斑样式营养不良的副作用对鉴定的变体杂合。与视网膜营养不良症一样受到eord / LCA影响的女儿是相同的变异的纯合。结论：在这个家庭中，PRPH2基因的相同致病变体显示出广泛的胆小门黄斑萎缩的广泛临床特征，与斑块Falvimaculatus以杂合的遗传模式和早期发作/ LCA在视网膜营养不良的早期发作/ LCA对致病变种的纯合的患者。

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