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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. Am J Med Genet A 2025 Feb;197(2):e63903

Date

10/15/2024

Pubmed ID

39404449

DOI

10.1002/ajmg.a.63903

Scopus ID

2-s2.0-85206338631 (requires institutional sign-in at Scopus site)

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.

Author List

Gonzalez T, Tyler RC, Schilter KF, McCarrier J, Muriello M, Basel D, Reddi HV

Authors

Donald Basel MD Chief, Professor in the Pediatrics department at Medical College of Wisconsin
Michael Muriello MD Associate Professor in the Pediatrics department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Child
Child, Preschool
Female
Humans
Infant
Intellectual Disability
Kidney
Lymphedema
Male
Microcephaly
Mutation
Phenotype
Retinal Diseases