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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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Dandy-Walker malformation in an individual with ABL1 variant.

Jenny P Garzon^1,2, Andrea C Pardo^2,3, Carolyn R Raski^1,2

¹Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.

American Journal of Medical Genetics. Part A

|May 18, 2024

Summary

Dandy-Walker malformation (DWM) can be linked to genetic causes. A new study links a rare ABL1 gene variant to DWM, suggesting a potential genetic association for this brain malformation.

Keywords:

ABL1 Dandy–Walker malformation developmental defects exome sequencing prenatal diagnosis

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Area of Science:

Neuroscience
Genetics
Developmental Biology

Background:

Dandy-Walker malformation (DWM) is a congenital brain abnormality.
While often sporadic, genetic factors are increasingly implicated in DWM.
ABL1-related neurodevelopmental disorder is a recently identified condition.

Observation:

A prenatal case of DWM was identified in a female infant.
This individual carried a de novo variant in the ABL1 gene (c.734A>G, p.Y245).
Brain malformations have not been extensively characterized in ABL1-related disorders.

Findings:

The study presents a case linking a de novo ABL1 variant to DWM.
A literature review identified one additional case of DWM associated with an ABL1 disorder.
These findings suggest a potential genetic association between ABL1 variants and DWM.

Implications:

This research expands the known phenotype of ABL1-related neurodevelopmental disorder.
It highlights the importance of genetic testing in cases of DWM.
Further research is warranted to confirm the association and understand the underlying mechanisms.