Mucolipidosis Type IV in Omani Families with a Novel MCOLN1 Mutation: Search for Evidence of Founder Effect

Badriya Al-Alawi, Beena Harikrishna, Khalid Al-Thihli, Sana Al Zuhabi, Anuradha Ganesh, Zainab Al Hashami, Zeyana Al Dhamhmani, Razan Zadjali, Nafila B. Al Riyami, Fahad Zadjali*

*المؤلف المقابل لهذا العمل

نتاج البحث: المساهمة في مجلةمراجعة النظراء

ملخص

Mucolipidosis Type IV (MLIV) is caused by a deficiency of the mucolipin cation channel encoded by Mucolipin TRP Cation Channel 1 gene (MCOLN1). It is a slowly progressive neurode-velopmental and neurodegenerative disorder causing severe psychomotor developmental delay and progressive visual impairment, which is often misdiagnosed as cerebral palsy. We describe six patients with MLIV from two Omani families with a novel c.237+5G>A mutation in the MCOLN1 gene predicted to affect mRNA splicing. Mutation screening with a high-resolution melting (HRM) assay in a large population sample did not detect this mutation in control subjects. This report highlights the importance of considering MLIV in the differential diagnosis of patients in a pediatric age group with cerebral palsy-like presentation. Although the same rare mutation was seen in two apparently unrelated families, this was not seen in the sample screened from the general population. The HRM assay provides a cost-effective assay for population screening for the c.237+5G>A mutation.

اللغة الأصليةEnglish
رقم المقال248
دوريةGenes
مستوى الصوت13
رقم الإصدار2
المعرِّفات الرقمية للأشياء
حالة النشرPublished - فبراير 2022

ASJC Scopus subject areas

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