Typical Familial Mediterranean Fever associated with the heterozygous missense sequence p.T577N variant of the MEFV gene : Report on two Northern European Caucasians relatives in France
Copyright © 2020 Société française de rhumatologie. Published by Elsevier Masson SAS. All rights reserved..
INTRODUCTION: Familial Mediterranean fever is the most frequent monogenic auto-inflammatory disorder that mostly affects Mediterranean population. Although this auto-inflammatory disease has historically been described as a recessive genetic disorder with homozygous or compound heterozygous mutations in the MEFV gene, an increasing number of cases are described with the detection of new single MEFV gene heterozygous mutations with modern molecular techniques.
CASE DESCRIPTION: We report the cases of Caucasian French descent father and daughter who exhibited joint and abdominal inflammatory attacks resembling Familial Mediterranean Fever. Genetic studies revealed in both a heterozygous mutation p.T577N in exon 8 of MEFV gene, and in which colchicine was effective for preventing the attacks.
CONCLUSION: Single heterozygous mutation of MEFV can be responsible for typical Familial Mediterranean Fever clinical pattern and, what is more, in non-Mediterranean ethnic background patients.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2020 |
|---|---|
| Erschienen: |
2020 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:87 |
|---|---|
| Enthalten in: |
Joint bone spine - 87(2020), 3 vom: 15. Mai, Seite 251-255 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Elhani, Ines [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
Autoinflammatory disease |
|---|
| Anmerkungen: |
Date Completed 25.06.2021 Date Revised 25.06.2021 published: Print-Electronic Citation Status MEDLINE |
|---|
| doi: |
10.1016/j.jbspin.2020.01.005 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM306032821 |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM306032821 | ||
| 003 | DE-627 | ||
| 005 | 20231225122455.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231225s2020 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1016/j.jbspin.2020.01.005 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1020.xml |
| 035 | |a (DE-627)NLM306032821 | ||
| 035 | |a (NLM)32007646 | ||
| 035 | |a (PII)S1297-319X(20)30008-7 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Elhani, Ines |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Typical Familial Mediterranean Fever associated with the heterozygous missense sequence p.T577N variant of the MEFV gene |b Report on two Northern European Caucasians relatives in France |
| 264 | 1 | |c 2020 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 25.06.2021 | ||
| 500 | |a Date Revised 25.06.2021 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright © 2020 Société française de rhumatologie. Published by Elsevier Masson SAS. All rights reserved. | ||
| 520 | |a INTRODUCTION: Familial Mediterranean fever is the most frequent monogenic auto-inflammatory disorder that mostly affects Mediterranean population. Although this auto-inflammatory disease has historically been described as a recessive genetic disorder with homozygous or compound heterozygous mutations in the MEFV gene, an increasing number of cases are described with the detection of new single MEFV gene heterozygous mutations with modern molecular techniques | ||
| 520 | |a CASE DESCRIPTION: We report the cases of Caucasian French descent father and daughter who exhibited joint and abdominal inflammatory attacks resembling Familial Mediterranean Fever. Genetic studies revealed in both a heterozygous mutation p.T577N in exon 8 of MEFV gene, and in which colchicine was effective for preventing the attacks | ||
| 520 | |a CONCLUSION: Single heterozygous mutation of MEFV can be responsible for typical Familial Mediterranean Fever clinical pattern and, what is more, in non-Mediterranean ethnic background patients | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Autoinflammatory disease | |
| 650 | 4 | |a Colchicine | |
| 650 | 4 | |a Familial Mediterranean Fever | |
| 650 | 4 | |a MEFV | |
| 650 | 4 | |a p.T577N | |
| 650 | 7 | |a MEFV protein, human |2 NLM | |
| 650 | 7 | |a Pyrin |2 NLM | |
| 650 | 7 | |a Colchicine |2 NLM | |
| 650 | 7 | |a SML2Y3J35T |2 NLM | |
| 700 | 1 | |a Dumont, Anael |e verfasserin |4 aut | |
| 700 | 1 | |a Deshayes, Samuel |e verfasserin |4 aut | |
| 700 | 1 | |a Georgin-Lavialle, Sophie |e verfasserin |4 aut | |
| 700 | 1 | |a Giurgea, Irina |e verfasserin |4 aut | |
| 700 | 1 | |a Aouba, Achille |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Joint bone spine |d 2000 |g 87(2020), 3 vom: 15. Mai, Seite 251-255 |w (DE-627)NLM106960067 |x 1778-7254 |7 nnns |
| 773 | 1 | 8 | |g volume:87 |g year:2020 |g number:3 |g day:15 |g month:05 |g pages:251-255 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1016/j.jbspin.2020.01.005 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 87 |j 2020 |e 3 |b 15 |c 05 |h 251-255 | ||