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 1.7 4区生物学 Q3 GENETICS & HEREDITY American Journal of Medical Genetics Part A 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

American Journal of Medical Genetics Part A 生物-遗传学

CiteScore

3.50

自引率

5.00%

发文量

432

审稿时长

2-4 weeks

期刊介绍： The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts: Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders. Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .