Related Experiment Video
Updated: Jun 6, 2025
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Phenotype-genotype correlation in children with familial Mediterranean fever in Morocco
Manal Souali1, Asmaa Sakhi1,2, Ahmed Aziz Bousfiha1,3
1Laboratory of Clinical Immunology, Inflammation and Allergy (LICIA), Hassan II University - Faculty of Medicine and Pharmacy of Casablanca, Morocco *Email: soualimanal@gmail.com.
Background:
Familial Mediterranean fever (FMF) is an autosomal recessive disease caused by mutations in the MEFV gene and is characterized by recurrent febrile episodes of abdominal pain, chest pain, and joint involvement. We aim to study the clinical and genetic features of FMF in Moroccan children and to establish a phenotype-genotype correlation in this group of patients.
Methods:
A total of 35 patients were included in this study. Genetic analysis of exon 10 of the MEFV gene was performed in 33 patients. To establish a phenotype-genotype correlation, we statistically compared clinical features between patients with and without the M694V mutation.
Results:
Abdominal pain was observed in 82.9% of our patients, followed by fever (74.3%), arthralgia (85.7%), arthritis (42.8%), chest pain (34.3%), and IgA vasculitis (20%). Genetic analysis showed a predominance of the M694V mutation (62.5%), followed by A744S (11.4%) and K695R (5.7%). The presence of the M694V genotype was found to be significantly associated with a high frequency of arthralgia and arthritis. A significant association was found with an earlier age of onset in the absence of the M694V mutation.
Conclusion:
Joint involvement is more common in the M694V genotype, and the genetic profile shows different results compared to neighboring countries.
More Related Videos
Related Concept Videos
02:27Background and Environment Affect Phenotype
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
01:11Genetic Lingo
01:35Pedigree Analysis
02:41Lethal Alleles
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
01:28Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...
01:43Incomplete Dominance