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Phenotypic spectrum associated with CASK loss-of-function mutations.

Ute Moog¹, Kerstin Kutsche, Fanny Kortüm

¹Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.

Journal of Medical Genetics

|September 29, 2011

Summary

Heterozygous mutations in the CASK gene cause brain malformations in females, including pontine and cerebellar hypoplasia. This study defines the clinical and imaging spectrum of CASK loss-of-function mutations.

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Area of Science:

Genetics
Neuroscience
Developmental Biology

Background:

Heterozygous mutations in the CASK gene (Xp11.4) are linked to specific brain malformations in females.
These malformations include disproportionate pontine and cerebellar hypoplasia.

Purpose of the Study:

To characterize CASK alterations in new female patients.
To define the phenotypic spectrum of CASK loss-of-function mutations.

Main Methods:

Molecular karyotyping, fluorescence in situ hybridization, and sequencing were used.
Reverse transcriptase (RT) and quantitative real-time PCR were employed.
Clinical and brain imaging data from 25 patients were reviewed.

Main Results:

Eleven submicroscopic copy number alterations (deletions/duplications) and various point mutations affecting CASK were identified.
Brain imaging revealed diffuse brainstem and cerebellar hypoplasia with a dilated fourth ventricle.
A core clinical phenotype includes severe developmental delay, microcephaly, hypotonia, optic nerve hypoplasia, and characteristic facial dysmorphisms.

Conclusions:

The findings delineate the phenotypic spectrum of CASK loss-of-function mutations.
The combination of developmental, imaging, and facial features suggests CASK gene testing.
This research aids in diagnosing a rare genetic brain malformation disorder.