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Refining the Phenotypic Spectrum of KMT5B-Associated Developmental Delay.

Aviva Eliyahu^1,2, Ortal Barel^3,4, Lior Greenbaum^1,2,5

¹The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Israel.

Frontiers in Pediatrics

|April 18, 2022

Summary

Deleterious variants in KMT5B cause neurodevelopmental disorders like intellectual disability (ID) and global developmental delay (GDD). This study identifies new KMT5B variants in patients with ID, macrocephaly, and developmental delays.

Keywords:

KMT5B de novo developmental delay intellectual disability macrocephaly

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Area of Science:

Genetics
Neurodevelopmental Disorders
Chromatin Biology

Background:

Lysine methyltransferases (KMTs) and demethylases (KDMs) are crucial for chromatin modification.
Heterozygous variants in KMT5B have been linked to intellectual disability (ID) and autism spectrum disorder (ASD).

Purpose of the Study:

To investigate the role of KMT5B in neurodevelopmental disorders.
To identify and characterize novel KMT5B variants in patients with global developmental delay (GDD) or ID, macrocephaly, and other features.

Main Methods:

Whole exome sequencing (WES) was performed on three unrelated patients.
Clinical presentations were analyzed and compared to previously reported cases.
Three-dimensional computational modeling was used to predict the structural effects of missense variants.

Main Results:

Three distinct de novo heterozygous pathogenic variants in KMT5B were identified in the probands: c.541C > G (p.His181Asp), c.833A > T (p.Asn278Ile), and c.391_394delAAAG (p.Lys131GlufsTer6).
The identified variants are associated with GDD/ID, macrocephaly, and additional clinical features.
Computational modeling predicted the structural impact of the missense variants.

Conclusions:

De novo missense and nonsense variants in KMT5B are implicated in GDD/ID.
KMT5B should be considered in the differential diagnosis of neurodevelopmental disorders, especially when accompanied by macrocephaly or overgrowth.