Gene Variant Found in First African CAMRQ1 Case
Researchers identify a novel VLDLR variant causing a rare cerebellar disorder in four siblings from one family.
Updated on Nov. 4, 2026 in Diseases — General
Researchers from CNAG, United Arab Emirates University and the University Cheikh Anta Diop in Senegal identified a novel homozygous VLDLR variant in four siblings affected by CAMRQ1, reported in Human Mutation. The study marks the first genetically confirmed case of CAMRQ1 on the African continent.
Why it matters
Limited genetic databases, the lack of confirmed African cases and overlapping features across CAMRQ disorders make molecular diagnosis difficult. Identifying the variant may support future therapeutic approaches aimed at restoring VLDLR function.
Rare diseases affect an estimated 3.5% to 5.9% of the world population, or about 300 million people, across more than 6,000 conditions. This study is based on whole-exome sequencing of four siblings from a single family, so the frequency of the variant in other populations remains unknown.
The players
Dr Pedro Rodríguez
A researcher in the Human Genetics Team at CNAG who led the study identifying the VLDLR variant.
CNAG
The National Center for Genomic Analysis in Barcelona, which provided the genomic technologies used for sequencing.
United Arab Emirates University
A public university in Al Ain that collaborated on the study.
University Cheikh Anta Diop
A public university in Dakar, Senegal that collaborated on the study.
The details
Using whole-exome sequencing, the team found that the VLDLR protein produced by the variant is retained in the endoplasmic reticulum and fails to reach the plasma membrane. Both parents were heterozygous carriers of the variant.
Health Landscape
CAMRQ1 has been documented in the Middle East, Europe and East Asia, but this study adds the first genetically confirmed African case. The finding highlights how limited population genetic databases in parts of the world can slow molecular diagnosis of rare disorders.
For families affected by rare genetic disorders, identifying the specific gene variant can clarify diagnosis and inform genetic counseling for relatives. The study does not report changes to available treatments or care for patients today.
The takeaway
Genetic testing can reveal diagnoses for rare disorders that have gone unidentified in populations underrepresented in genetic databases. Broader sequencing efforts may help families in many regions receive accurate answers.
Further reading
Explore more on Diseases — General to see how rare genetic disorders are identified and studied.
More information
Read the Human Mutation study identifying novel VLDLR variant for the full genetic and functional findings.
Source note: This article includes information reported by Biotech-spain.
