✦ LIBER ✦

The E148Q mutation in the MEFV gene: Is it a disease-causing mutation or a sequence variant?

✍ Scribed by Eldad Ben-Chetrit; Israela Lerer; Esther Malamud; Cecile Domingo; Dvorah Abeliovich

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 26 KB
Volume: 15
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(200004)15:4<385::aid-humu22>3.0.co;2-a

No coin nor oath required. For personal study only.

✦ Synopsis

Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent attacks of serositis. To date more then 18 mutations responsible for the disease were identified in the MEFV gene, one such a mutation is E148Q in exon 2 of the gene. While screening FMF patients for mutations in the MEFV gene, we have identified 2 individuals parents of 2 unrelated FMF patients, who were homozygous for E148Q mutation. Upon clinical examination they were absolutely disease free and therefore raised the possibility that this mutation is a benign polymorphism rather than a mutation causing disease. To further investigate the role of the E148Q in FMF we analyzed 25 parents of FMF patients and a control group of 70 individuals, Jews of Moroccan extraction to match for ethnicity of the patients. The rate of E148Q in the control group was 6.4%, being 7.8% among the patient group. Among the parents group (obligatory carriers), in addition to the 2 parents that were homozygous E148Q, in 2 families one of the parents was heterozygote for E148Q but transmitted the other allele (apparently with unknown FMF mutation) to the affected child. Two healthy sibs of one of the E148Q homozygous were also homozygous E148Q. These observations are not in accordance to the notion that E148Q is a mutation causing disease

📜 SIMILAR VOLUMES

I591T MEFV mutation in a Spanish kindred

I591T MEFV mutation in a Spanish kindred: is it a mild mutation, a benign polymorphism, or a variant influenced by another modifier?

✍ Anna Aldea; Jordi Casademont; Juan I. Aróstegui; Josefa Rius; Montserrat Masó; J 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 83 KB

## Communicated by Richard G.H. Cotton Familial Mediterranean fever (FMF, MIM# 249100) is an autosomal recessive disease described mostly in the Mediterranean area and characterized by recurrent febrile episodes in association with peritonitis, pleuritis, and arthritis. In 1997, the gene responsib

The c.−103T>C variant in the 5′-UTR of S

The c.−103T>C variant in the 5′-UTR of SLC26A4 gene: a pathogenic mutation or coincidental polymorphism?

✍ Tao Yang; Richard J.H. Smith 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 82 KB

Antisense oligonucleotide treatment for

Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease

✍ Laura Rodríguez-Pascau; Maria Josep Coll; Lluïsa Vilageliu; Daniel Grinberg 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 498 KB

Niemann-Pick type C disease is an autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. While most of the mutations are missense, a few splicing mutations have also been described. We identified and characterized a novel point mutation c.1554-1009G>A located in intron 9 o

The major mutation in the RMRP gene caus

The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases

✍ Maaret Ridanpää; Pawan Jain; Victor A. Mckusick; Clair A. Francomano; Ilkka Kait 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 67 KB 👁 1 views

Response to: The c.−103T>C variant in th

Response to: The c.−103T>C variant in the 5′-UTR of SLC26A4 gene: a pathogenic mutation or coincidental polymorphism?

✍ Byung Yoon Choi; Seth L. Alper; Andrew J. Griffith 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 83 KB

Novel acceptor splice site mutation in t

Novel acceptor splice site mutation in the invariant AG of intron 6 of α-galactosidase A gene, causing Fabry disease

✍ Takehiko Matsumura; Hitoshi Osaka; Naoya Sugiyama; Chiaki Kawanishi; Yasuko Maru 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 81 KB 👁 1 views

We found a novel acceptor splice site mutation in the invariant AG of intron 6 of a-galactosidase A (a-Gal A) gene (IVS6-1G->A) in a patient with Fabry disease by sequencing of genomic DNA. Sequencing of RT-PCR revealed the deletion of first base pair (c909del) of exon 7 in mRNA and a frameshift res