与新型肾脏系统受累相关的KIF11变异——两例扩大伴或不伴脉络膜视网膜病变、淋巴水肿或智力发育受损的小头畸形表型谱的病例

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.

作者信息

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

机构信息

Division of Clinical Genomics, Department of Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.

Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.

出版信息

Am J Med Genet A. 2025 Feb;197(2):e63903. doi: 10.1002/ajmg.a.63903. Epub 2024 Oct 15.

DOI:10.1002/ajmg.a.63903

PMID:39404449

Abstract

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.

摘要

KIF11基因的致病性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的小头畸形（MCLMR）相关。据我们所知，文献中尚未描述与KIF11相关疾病相关的肾脏表型。本研究报告了两名携带KIF11基因杂合致病性变异的先证者，他们具有MCLMR的常见临床特征，但也有先前未报告为MCLMR相关表型的额外肾脏受累情况，阐明了该综合征的表型扩展。