Phenotype-genotype updates from familial Mediterranean fever database registry of Mansoura University Children' Hospital, Mansoura, Egypt.
Loading...
Date
2014-01
Journal Title
Journal ISSN
Volume Title
Publisher
Abstract
BACKGROUND: Familial Mediterranean fever (FMF)
is autosomal recessive disease that affects people
from Mediterranean region, Europe and Japan. Its
gene (Mediterranean fever [MEFV]) has more than 100
mostly non‑sense mutations.
OBJECTIVES: The objective of the following study is
to provide some phenotype‑genotype correlates in FMF
by categorizing the Egyptian FMF cases from Delta
governorates after analysis of the four most common
mutations of MEFV gene (M680I, M694I, M694V, V726A).
SUBJECTS AND METHODS: Clinically, suspected
FMF cases using Tel‑Hashomer criteria were enrolled in
the study. Cases were referred to Mansoura University
Children’s Hospital that serves most of the most middle
Delta governorates, in the period from 2006 to 2011.
Subjects included 282 males and 144 females, mean age
of onset 9.3 ± 2.2 years. All cases were analyzed for these
mutations using amplification refractory mutation system
based on the polymerase chain reaction technique. Five
FMF patients agreed to undergo renal biopsy to check for
development of amyloidosis. Analysis of data was carried
out using SPSS (SPSS, Inc., Chicago, IL, USA).
RESULTS: Mutation was found in 521 out of 852 studies
alleles, the most frequent is M694V (35.4%) followed by
M694I, V726A and M680I. 11 cases were homozygous;
7 M694V, 3 M680I and only one M694I case. Severe
abdominal pain occurred in 31 (7.28%) but severe arthritis in
103 cases (24.2%). Strong association was found between
arthritis and homozygous mutant compared with single
and double heterozygous (72.7% vs. 33.3% and 20.24%,
P < 0.001). Four amyloid cases were M694V positive. CONCLUSION: M694V allele is the most common among
Egyptian FMF especially those with amyloidosis. We
recommend routine check for amyloidosis in FMF cases
to statistically validate this link.
Description
Keywords
Amyloidosis, familial Mediterranean fever, Mediterranean fever gene, M694V
Citation
Al-Haggar Mohammad S, Yahia Sohier, Abdel-Hady Dina, Al-Saied Afaf, Al-Kenawy Rasha, Abo-El-Kasem Rabab. Phenotype-genotype updates from familial Mediterranean fever database registry of Mansoura University Children' Hospital, Mansoura, Egypt. Indian Journal of Human Genetics. 2014 Jan-Mar ;20 (1): 43-50.