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Related Experiment Video

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Methods for the Modulation and Analysis of NF-κB-dependent Adult Neurogenesis

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Expanding the KIF4A-associated phenotype.

Silvia Kalantari^1,2, Colleen Carlston³, Norah Alsaleh⁴

¹Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.

American Journal of Medical Genetics. Part A

|August 4, 2021

Summary

This summary is machine-generated.

Pathogenic variants in Kinesin super family (KIF) genes cause various diseases. This study expands the KIF4A gene variant phenotype to include congenital anomalies like hydrocephalus and brain abnormalities.

Keywords:

KIF4A brain anomalies hydrocephalus intellectual disability kinesinopathies kinesins

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Area of Science:

Genetics
Molecular Biology
Developmental Biology

Background:

Kinesin super family (KIF) genes encode motor proteins crucial for intracellular transport.
KIF genes are vital for neuronal function, ciliary function, and cell-cycle progression.
Pathogenic variants in KIF genes are linked to monogenic disorders, including neuropathies and congenital anomalies.

Purpose of the Study:

To expand the known phenotype associated with KIF4A gene variants.
To characterize the spectrum of congenital anomalies linked to KIF4A.
To investigate genotype-phenotype correlations in KIF4A-related disorders.

Main Methods:

Clinical data review of patients with KIF4A variants.
Phenotypic characterization including neurological, developmental, and congenital anomalies.
Comparison with phenotypes of other Kinesinopathies.

Main Results:

KIF4A variants are associated with a broader phenotype than previously recognized, including developmental delay, intellectual disability, epilepsy, and congenital anomalies.
A severe end of the KIF4A phenotype includes hydrocephalus and various brain anomalies.
Additional associated anomalies include renal, urinary tract, lymphedema, eye, and dental abnormalities.

Conclusions:

KIF4A pathogenic variants contribute to a spectrum of human diseases, extending beyond developmental and intellectual deficits.
The study identifies a congenital anomaly phenotype associated with KIF4A, including hydrocephalus and brain abnormalities.
Further research with larger patient cohorts and functional studies is needed to refine genotype-phenotype correlations for KIF4A.