Novel nonsense variant of KIF11 in a patient with MCLMR

TL;DR

A new genetic variant in KIF11 is linked to a rare disorder with symptoms like microcephaly and eye issues, emphasizing the need for early diagnosis and genetic counseling.

Contribution

A novel de novo KIF11 nonsense variant is identified and associated with a broader phenotypic spectrum of the disorder.

Findings

A patient with microcephaly and eye abnormalities carries a novel KIF11 variant (p.Glu123Ter).

The variant is de novo and considered pathogenic, expanding the known clinical features of KIF11-related disorders.

Early ophthalmological evaluation and genetic counseling are highlighted as crucial for diagnosis and management.

Abstract

Microcephaly with or without chorioretinopathy, lymphedema or mental retardation is a rare KIF11-related disorder. Here we report the case of a patient with microcephaly, lymphedema, nystagmus and familial exudative vitreoretinopathy carrying a novel de novo KIF11 nonsense variant (NM_004523.4:p.Glu123Ter), which is considered pathogenic. This case expands the phenotypic range of KIF11 pathogenic variants and highlights the importance of early ophthalmological evaluation, genetic counseling and family assessment.

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