The Cohen syndrome in Israel

Area of Science:

• Medical Genetics
• Clinical Medicine
• Human Disease Epidemiology

Background:

• Cohen syndrome is a rare genetic disorder with distinctive clinical manifestations.
• Understanding its prevalence and inheritance is crucial for genetic counseling and diagnosis.

Purpose of the Study:

• To describe the clinical features, ethnic distribution, and presentation of Cohen syndrome.
• To investigate the mode of inheritance and associated conditions.
• To highlight the apparent high prevalence among Jewish children.

Main Methods:

• Retrospective analysis of clinical data from 39 patients across 32 families.
• Review of patient records for clinical features, family history, and ethnic background.
• Assessment of inheritance patterns and associated diseases.

Main Results:

• Detailed description of clinical phenotypes in the cohort.
• Identification of specific ethnic distributions, with a notable concentration in Jewish families.
• Characterization of the mode of inheritance consistent with autosomal recessive inheritance.

Conclusions:

• Cohen syndrome presents with a recognizable set of clinical features.
• The syndrome exhibits a higher prevalence in the Jewish population, suggesting a founder effect or specific genetic factors.
• Further research is warranted to elucidate the genetic basis and expand therapeutic strategies.