KBG Syndrome in 16 Indian Individuals.

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2024-10-15 DOI:10.1002/ajmg.a.63907

Shruti Bajaj, Sheela Nampoothiri, Roshni Chugh, Jayesh Sheth, Frenny Sheth, Harsh Sheth, Vinu Narayan, Ameya Deshpande, Anaita Hegde, Aradhana Dwivedi, Dhanya Yeshodharan, Indu Khosla, Madhukar Mittal, Mahesh Kore, Vedam Ramprasad, Anbu Kayalvizhi C, Katta M Girisha

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引用次数: 0

Abstract

We aimed to describe the clinical and genetic characteristics of 16 individuals with KBG syndrome (KBGS) from 13 Indian families. We retrospectively analyzed the clinical details of individuals with KBGS harboring a likely pathogenic/pathogenic variant in ANKRD11. We also analyzed their facial gestalt using Face2Gene and recorded the top three differential disorders suggested by the application. The most frequent clinical features observed in our cohort were as follows: learning and intellectual disability-14/15 (93%), skeletal abnormalities-14/15 (93%), postnatal short stature-13/15 (87%), brachydactyly-11/15 (73%), and characteristic facial appearance-13/15 (87%). We identified 12 single nucleotide variants (SNVs), including six recurrent and six novel variants, and a copy number variant in the 16q24.3 region encompassing ANKRD11 gene. The novel variants were as follows: p.(Gln1236Ter), p.(Asp884ThrfsTer93), p.(Arg1466GlyfsTer87), p.(Tyr2056Ter), p.(Leu955TrpfsTer22), and p.(Lys766ArgfsTer10). The identified SNVs in ANKRD11 clustered around exon 9. We observed a high concordance of Face2Gene in predicting KBGS.

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16 名印度人的 KBG 综合征

我们旨在描述来自 13 个印度家庭的 16 名 KBG 综合征（KBGS）患者的临床和遗传特征。我们回顾性地分析了携带 ANKRD11 可能致病/致病变异的 KBGS 患者的临床细节。我们还使用 Face2Gene 分析了他们的面部形态，并记录了该应用程序建议的前三种鉴别疾病。在我们的队列中观察到的最常见临床特征如下：学习和智力障碍-14/15（93%）、骨骼异常-14/15（93%）、出生后身材矮小-13/15（87%）、腕畸形-11/15（73%）和特征性面部外观-13/15（87%）。我们在包含ANKRD11基因的16q24.3区域发现了12个单核苷酸变异（SNV），包括6个复发性变异和6个新型变异，以及一个拷贝数变异。新型变异如下：p.(Gln1236Ter)、p.(Asp884ThrfsTer93)、p.(Arg1466GlyfsTer87)、p.(Tyr2056Ter)、p.(Leu955TrpfsTer22)和p.(Lys766ArgfsTer10)。在 ANKRD11 中发现的 SNV 都集中在第 9 号外显子周围。我们观察到 Face2Gene 预测 KBGS 的一致性很高。

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来源期刊

Accounts of Chemical Research 化学-化学综合

CiteScore

31.40

自引率

1.10%

发文量

312

审稿时长

2 months

期刊介绍： Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.