Novel CHM mutations identified in Chinese families with Choroideremia

Area of Science:

• Ophthalmology
• Genetics
• Molecular Biology

Background:

• Choroideremia is a progressive X-linked inherited disorder causing chorioretinal atrophy.
• Mutations in the CHM gene lead to Rab escort protein 1 (REP-1) deficiency and prenylation issues.

Purpose of the Study:

• To identify CHM gene mutations in Chinese families with choroideremia.
• To expand the spectrum of known disease-causing variants in the CHM gene.
• To enhance understanding of genotype-phenotype correlations in choroideremia.

Main Methods:

• Targeted exome sequencing (TES) was employed to detect CHM gene mutations.
• Data analysis involved an established filtering strategy.
• Co-segregation analysis confirmed identified mutations.

Main Results:

• A previously reported CHM mutation (c.1584_1587del TGTT, p.V529Hfs*7) was found in one family.
• Two novel CHM mutations (c.227_232delinsTGTCATTTCA, p.Q76Lfs*7 and c.710dupA, p.Y237_S238delinsX) were identified in two other families.
• These findings expand the known spectrum of Chinese CHM variants.

Conclusions:

• The study identified both known and novel mutations in the CHM gene in Chinese choroideremia patients.
• These findings contribute to the understanding of choroideremia's genetic basis and phenotypic variability.
• The results may improve genetic counseling and inform future therapeutic strategies for choroideremia.