【佳學(xué)基因檢測】A Novel Missense Variant C.2571 (P.Ala857=) of the DHX38 Gene in a Saudi Family Causes an Autosomal Recessive Retinitis Pigmentosa

眼底檢查異常的基因檢測如何阻斷遺傳

根據(jù)眼底檢查異常的基因檢測如何阻斷遺傳，國際著名基因檢測科學(xué)性證據(jù)雜志《.?2022 Apr 30;28(4):260-262.》在第Middle East Afr J Ophthalmol期發(fā)表了一篇標(biāo)題為《A Novel Missense Variant C.2571 (P.Ala857=) of the DHX38 Gene in a Saudi Family Causes an Autosomal Recessive Retinitis Pigmentosa》的基因檢測中的錯(cuò)義突變臨床分析文章。該基因領(lǐng)域的臨床應(yīng)用研究由Saud Al-Johani,?Abdulelah Alabdullah,?Sawsan R Nowilaty?完成。

基因信息數(shù)據(jù)庫索引號：

和.?2022 Apr 30;28(4):260-262.

基因解碼研究關(guān)鍵詞：

?DHX38; Gene mutation; renitis pigmentosa.

國際基因解碼證據(jù)鏈條標(biāo)簽：

基因檢測臨床研究與應(yīng)用結(jié)果介紹：

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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