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Related Experiment Video

Updated: Apr 16, 2026

Experimental Approaches to Study Mitochondrial Localization and Function of a Nuclear Cell Cycle Kinase, Cdk1

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Two Siblings With a CDKL5 Mutation: Genotype and Phenotype Evaluation.

Eveline E O Hagebeuk¹, Carlo L Marcelis², Mariëlle Alders³

¹Department of Pediatric Neurology, Stichting Epilepsie Instellingen Nederland, Zwolle, Netherlands ehagebeuk@sein.nl.

Journal of Child Neurology

|March 13, 2015

Summary

This study reports a rare CDKL5 mutation recurrence in two sisters, likely due to germline mosaicism in a parent. This finding impacts genetic counseling for families with CDKL5 disorder.

Keywords:

CDKL5 disorder clinical presentation electroencephalography familial presentation genetic counseling germline mosaicism phenotype

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Area of Science:

Genetics
Neurology
Pediatrics

Background:

CDKL5 mutations cause a severe neurodevelopmental disorder resembling Rett syndrome.
Genetic mutations in CDKL5 and MECP2 are key factors in these conditions.
Familial recurrence of CDKL5 mutations is uncommon.

Observation:

Two sisters presented with a CDKL5 mutation (c. 283-3_290del), with parents testing negative.
Germline mosaicism in a parent is suspected as the cause of recurrence.
While both sisters had a CDKL5 phenotype, their clinical presentations differed significantly.

Findings:

The older sister exhibited severe developmental delay, hypotonia, and refractory seizures from birth.
The younger sister showed normal development until 3 months, followed by seizures and regression.
An epileptic encephalopathy developed in the younger sister, highlighting variable disease onset and progression.

Implications:

This case underscores the importance of considering germline mosaicism in familial CDKL5 recurrence.
Accurate recurrence risk assessment is challenging but likely increased in such families.
Findings have significant implications for genetic counseling and family planning for CDKL5 disorder.