European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
July 4, 2026 · via Europe PMC
Genotypic and phenotypic spectrum of congenital myasthenic syndrome: Insights from Southeastern Türkiye.
Cebeci D, Aydin S, Unal A, Esener Z, Bas H, Tekes S.
AI summary — for doctors, generated from the abstract only
A genetic study of 15 pediatric patients with congenital myasthenic syndrome from a high-consanguinity region of Southeastern Türkiye found the condition was predominantly caused by a specific recurrent COLQ gene variant, likely reflecting a founder effect in this population.
What was studied
A study evaluated clinical and genetic characteristics of 15 pediatric patients (9 girls, 6 boys) with congenital myasthenic syndrome (CMS) from Southeastern Türkiye, a region with a 43% consanguineous marriage rate, using clinical exome sequencing to identify causative gene variants.
Key findings
- Mean age was 7.4 years, mean age at diagnosis was 5.8 years, and symptoms were present from birth in most patients, with the latest onset at age 11
- Homozygous variants in COLQ were identified in 11 of 15 patients (73%), with CHAT, DOK7, and RAPSN variants in one patient each, and a compound heterozygous MYO9A variant in one patient
- The same COLQ variant, c.444G>A, was found in all COLQ-variant patients except one (who had c.706C>T)
- Epilepsy was observed in three patients (two with COLQ variants, one with a CHAT variant)
Clinical relevance
The findings suggest that in this high-consanguinity Southeastern Turkish population, congenital myasthenic syndrome is predominantly caused by a single recurrent COLQ variant, likely due to a founder effect, which may help streamline genetic diagnosis and inform treatment selection (since CMS diagnosis and treatment are structured around specific genetic subtype) for patients from this or similar populations.
Who should care
Limitations
This is a small (15 patients), single-region descriptive genetic study, and the high prevalence of the specific COLQ founder variant observed may not generalize to CMS populations in other regions without similar consanguinity patterns.
Congenital myasthenic syndrome in this Southeastern Turkish cohort was predominantly caused by a single recurrent COLQ gene variant, likely reflecting a founder effect linked to the region's high consanguinity rate, which may guide targeted genetic testing in similar populations.
This is an AI-generated summary of the published abstract, not a clinical recommendation. It may not reflect the full text or subsequent updates — verify against the original source before acting on it.
Abstract
Congenital myasthenic syndromes (CMS) are inherited disorders caused by defects of the neuromuscular junction. Both the definitive diagnosis and the treatment are structured in accordance with genetic analysis. We aimed to investigate the clinical and genetic characteristics of CMS in a pediatric cohort from Southeastern Türkiye, a region with high rates of consanguineous marriage. The clinical features and demographic data of fifteen patients (9 girls, 6 boys) with CMS were evaluated. Genetic analysis was performed using clinical exome sequencing. The mean age of patients was 7.4 ± 4.1 years, and the mean age at diagnosis was 5.8 ± 4 years. Symptoms were present from birth in most patients. The latest age at symptom onset was 11 years. The patients presented with ptosis, ophthalmoplegia, muscle weakness, frequent falls, collapse, respiratory distress, dysphagia, and laryngomalacia. Homozygous variants in COLQ (11/15, 73%), CHAT (1), DOK7 (1), RAPSN (1), and a compound heterozygous variant in MYO9A (1) were identified. The same variant, c.444G > A, was detected in all patients with COLQ variants except one, in whom the c.706C > T variant was identified. Epilepsy was observed in three patients (two with COLQ and one with CHAT variants). CMS in Southeastern Türkiye is predominantly caused by COLQ variants, particularly the recurrent c.444G > A nonsense variant, likely reflecting a founder effect in this region with a consanguineous marriage rate of 43%.
DOI
10.1016/j.ejpn.2026.07.001
PMID
42407161
Research metadata (titles, abstracts, authors, publication dates) is sourced from Europe PMC, which aggregates content from PubMed/MEDLINE, PubMed Central, and other providers under the U.S. National Library of Medicine (NLM/NCBI). NLM does not claim copyright on abstracts; the original journal publishers or authors may hold rights to the full articles. AI-generated summaries are derived only from the abstract, never the full text, and are always labeled as AI-generated.
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