与新型肾脏系统受累有关的 KIF11 变异--两例扩大了伴有或不伴有脉络膜视网膜病变、淋巴水肿或智力发育受损的小头畸形的表型范围。

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY Accounts of Chemical Research Pub Date : 2024-10-15 DOI:10.1002/ajmg.a.63903

Tessa Gonzalez, Rebecca C Tyler, Kala F Schilter, Julie McCarrier, Michael Muriello, Donald Basel, Honey V Reddi

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引用次数: 0

摘要

KIF11 的致病变异与伴有或不伴有脉络膜视网膜病变、淋巴水肿或智力发育受损（MCLMR）的小头畸形有关。据我们所知，与 KIF11 相关疾病有关的肾脏表型在文献中尚未见描述。本研究报告了两个具有 KIF11 杂合子致病性变异的病例，他们具有 MCLMR 的常见临床特征，但同时还伴有以前未作为 MCLMR 相关表型报道过的肾脏受累，从而阐明了该综合征的表型扩展。

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KIF11 Variants Associated With Novel Renal System Involvement-Two Cases That Expand the Phenotypic Spectrum of Microcephaly With or Without Chorioretinopathy, Lymphedema, or Impaired Intellectual Development.

Pathogenic variants in KIF11 are linked to microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development (MCLMR). To our knowledge, renal phenotypes have not been described in the literature in association with KIF11-related disorders. This study is a case report of two probands with heterozygous pathogenic variants in KIF11 who presented with the common clinical features of MCLMR but also had additional renal involvement not previously reported as associated phenotypes of MCLMR, elucidating phenotypic expansion of this syndrome.

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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.

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