Exome sequencing reveals a novel mutation, p.L325H, in the KRT5 gene associated with autosomal dominant Epidermolysis Bullosa Simplex Koebner type in a large family from western India

Shamsudheen K Vellarikkal; Ashok Patowary; Meghna Singh; Renu Kumari; Mohammed Faruq; Dilip C Master; Sridhar Sivasubbu; Vinod Scaria

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Exome sequencing reveals a novel mutation, p.L325H, in the KRT5 gene associated with autosomal dominant Epidermolysis Bullosa Simplex Koebner type in a large family from western India

机译：外显子组测序揭示了与来自印度西部一个大家庭的常染色体显性遗传表皮松解性Bullosa Simplex Koebner型相关的KRT5基因中的一个新突变p.L325H

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We report a large, non-consanguineous family comprising five generations of individuals residing in Gujarat, India affected with localized Epidermolysis Bullosa Simplex (EBS) Koebner type. We analyzed 14 individuals including 9 affected individuals from this family. Exome sequencing in two cases suggested a novel non-synonymous variation, p.L325H, in the KRT5 gene. The present analysis also reports the first causative mutation of EBS Koebner type from India.

机译：我们报告了一个大的，非近亲的家庭，包括居住在印度古吉拉特邦的五代人，这些人受到局部表皮松解性Bullosa Simplex（EBS）Koebner型的影响。我们分析了14个个体，其中包括9个受影响的个体。在两种情况下，外显子组测序表明KRT5基因有一个新的非同义变异p.L325H。本分析还报告了来自印度的EBS Koebner类型的第一个致病突变。

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《Human genome variation.》 |2014年第3期|共页
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Shamsudheen K Vellarikkal; Ashok Patowary; Meghna Singh; Renu Kumari; Mohammed Faruq; Dilip C Master; Sridhar Sivasubbu; Vinod Scaria;
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中图分类医学遗传学;
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1. Digenic inheritance of KRT5 KRT5 and KRT14 KRT14 mutations in a family with epidermolysis bullosa simplex [J] . The Australasian journal of dermatology . 2020,第2期

机译：krt5 krt5和krt14 krt14突变在一个家庭中的krt5 krt5和krt14 krt14突变的突变
2. Gene dosage effect of p.Glu170Lys mutation in the KRT5 gene in a Polish family with epidermolysis bullosa simplex. [J] . Oldak M, Szczecinska W, Przybylska D, Journal of dermatological science . 2011,第1期

机译：在波兰表皮松解性大疱性家庭中，KRT5基因中p.Glu170Lys突变的基因剂量效应。
3. Homozygous Biallelic KRT5 Mutations in Epidermolysis Bullosa Simplex, Including a Complete Human Keratin 5 "Knock-Out", in Families with Extensive Consanguinity [J] . Vahidnezhad H., Youssefian L., Daneshpazhooh M., The Journal of investigative dermatology. . 2019,第9Suppla2期

机译：表皮溶解Bullosa Simplex的纯合双胞胎Krt5突变，包括一个完整的人类角蛋白5“敲门”，在具有广泛血缘的家庭中
4. Exome sequencing reveals a novel mutation p.L325H in the KRT5 gene associated with autosomal dominant Epidermolysis Bullosa Simplex Koebner type in a large family from western India [O] . Shamsudheen K Vellarikkal, Ashok Patowary, Meghna Singh, 2014

机译：外显子组测序揭示了与来自印度西部一个大家庭的常染色体显性遗传表皮松解性Bullosa Simplex Koebner型相关的KRT5基因中的一个新突变p.L325H
5. Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 “knock-out” [O] . Hassan Vahidnezhad, Leila Youssefian, Maryam Daneshpazhooh, 2019

机译：常染色体隐性表皮细胞分解Bullosa simplex的双曲线Krt5突变，包括完整的人类角蛋白5“敲门”

Exome sequencing reveals a novel mutation, p.L325H, in the KRT5 gene associated with autosomal dominant Epidermolysis Bullosa Simplex Koebner type in a large family from western India

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