KIF11 Variants Associated With Novel Renal System Involvement-Two Cases That Expand the Phenotypic Spectrum of
Tessa Gonzalez1, Rebecca C Tyler1, Kala F Schilter1
1Division of Clinical Genomics, Department of Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
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.
Related Concept Videos
Nephrotic Syndrome I : Introduction
Teratogenicity


