CDK13-related disorder.

Area of Science:

• Genetics
• Developmental Biology
• Clinical Medicine

Background:

• Cyclin-Dependent Kinase 13 (CDK13) mutations are a newly identified cause of syndromic intellectual disability.
• CDK13-related disorder presents with a distinct set of clinical features.

Purpose of the Study:

• To review reported cases of CDK13-related disorder.
• To identify key clinical features, mutation spectrum, and genotype-phenotype correlations.
• To provide recommendations for clinical care and suggest future research directions.

Main Methods:

• Literature review of 44 reported cases of CDK13-related disorder.
• Analysis of clinical features, mutation types, and genotype-phenotype correlations.
• Synthesis of current knowledge on diagnosis, management, and research gaps.

Main Results:

• Key clinical pointers include craniofacial features, infantile feeding difficulties, and structural heart/brain malformations.
• Missense mutations in the protein kinase domain are common, with specific variants linked to malformations.
• Haploinsufficiency mutations may correlate with milder phenotypes, while missense variants might act via a dominant-negative mechanism.

Conclusions:

• CDK13-related disorder diagnosis requires awareness of specific clinical signs.
• Management should include echocardiography, feeding/swallowing assessments, and developmental monitoring.
• Further research is needed to clarify the pathogenicity of haploinsufficiency and gather longitudinal data.