【佳学基因检测】A Novel Missense Variant C.2571 (P.Ala857=) of the DHX38 Gene in a Saudi Family Causes an Autosomal Recessive Retinitis Pigmentosa

眼底检查异常的基因检测如何阻断遗传

根据眼底检查异常的基因检测如何阻断遗传，国际著名基因检测科学性证据杂志《. 2022 Apr 30;28(4):260-262.》在第Middle East Afr J Ophthalmol期发表了一篇标题为《A Novel Missense Variant C.2571 (P.Ala857=) of the DHX38 Gene in a Saudi Family Causes an Autosomal Recessive Retinitis Pigmentosa》的基因检测中的错义突变临床分析文章。该基因领域的临床应用研究由Saud Al-Johani, Abdulelah Alabdullah, Sawsan R Nowilaty 完成。

基因信息数据库索引号：

和. 2022 Apr 30;28(4):260-262.

基因解码研究关键词：

 DHX38; Gene mutation; renitis pigmentosa.

国际基因解码证据链条标签：

基因检测临床研究与应用结果介绍：

We present two cases of a novel missense variant mutation in the DHX38 gene, which is associated with autosomal recessive retinitis pigmentosa (RP) in two Saudi sisters who presented with poor visual acuity since childhood. On initial examination, the best-corrected visual acuity was 20/300 in both eyes for the two sisters. Fundus examination revealed widespread retinal pigmentary changes, linear peripheral hyperpigmentation clumps, bone spicules, and bilateral optic nerve drusen with bilateral macular hyperpigmentation. Spectral-domain optical coherence tomography scans reveal losses of the outer retinal layer and the presence of subretinal fibrosis and thinning of the choroid. Molecular sequencing analysis of the DHX38 exome identified a novel missense mutation of the homozygous variant c. 2571 (p. Ala857=), which co-segregates with the autosomal recessive RP gene that encodes the premRNA splicing factor, PRP16. The aim of this report is to describe the clinical feature associated with this variant and to provide additional evidence that DHX38 is involved in RP. To the best of our knowledge, this variant has not been described in the literature.

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