Rare diseases in the Turkish-Cypriot community: a nationwide study.
Most rare genetic diseases identified occurred in only one patient each
Rare diseases in the Turkish-Cypriot community: a nationwide study.
Minor or genetically isolated populations like Turkish-Cypriots (Turkish-Cypriots) are usually challenging to diagnose and treat for uncommon genetic diseases.
The objective of the current study is to identify and investigate the rarest genetic disorders in Turkish-Cypriots patients.
Turkish-Cypriots may exhibit several patterns of unusual genetic disorders based on their unique historical and demographic conditions.
Therefore, between 2019 and 2025, clinical and genetic data, which were confirmed by gene panels and exome sequencing, from 150 Turkish-Cypriots patients were retrospectively analysed in our clinic.
Out of 150 patients, 123 different rare diseases were discovered.
Observed in 10 cases (6.7%), neurofibromatosis (type 1) was the most common of these, trailed by spinal muscular atrophy in 6 cases (4%), phenylketonuria in 6 cases (4%), and episodic kinesigenic dyskinesia type 1 in 4 cases (2.7%).
The results demonstrate an overrepresentation of particular neurogenetic syndromes and underline the necessity of targeted screening procedures and population-dependent databases to maximise diagnostic yield and genetic counselling in this poorly characterised population.