Evidence of digenic inheritance in autoinflammation-associated genes

Keywords

MEFV, Familial Mediterranean fever, Mutation, Compound heterozygosity, Genetics

References

• Familial Mediterranean fever: clinical, molecular and management advancements.Merav Lidar, Avi Livneh — 2007
• MEFV mutation analysis of familial Mediterranean fever in Japan.Nozomi Tomiyama, Y Higashiuesato, Tsukasa Oda — 2008
• Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle–Wells syndromeHal M. Hoffman, James L. Mueller, David H. Broide — 2001
• Familial Mediterranean Fever Associated with MEFV Mutations in a Large Cohort of Cypriot PatientsVassos Neocleous, Constantina Costi, Christina Kyriakou — 2015
• The journal of geneticsWilliam Bateson, R. C. Punnett — 1910
• Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groupsNava Stoffman, Nurit Magal, Tamy Shohat — 2000
• Systemic AA amyloidosis as a unique manifestation of a combined mutation of TNFRSF1A and MEFV genesOana Madalina Mereuta, Simone Baldovino, Edoardo Errichiello — 2013
• The infevers autoinflammatory mutation online registry: update with new genes and functionsFlorian Milhavet, Laurence Cuisset, Hal M. Hoffman — 2008
• Analysis of Familial Mediterranean Fever Gene Mutations in 202 Patients with Familial Mediterranean FeverMustafa Solak, Handen Yıldız, Reşit Köken — 2008
• A severe autosomal‐dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: An unusual familial Mediterranean fever phenotype or another MEFV‐associated periodic inflammatory disorder?Anna Aldea, Josep M. Campistol, Juan I. Aróstegui — 2004
• Novel double heterozygous mutations in MEFV and NLRP3 genes in a patient with familial Mediterranean fever.Dmitriy Timerman, Natasha Y. Frank — 2013
• Refractory auto-inflammatory syndrome associated with digenic transmission of low-penetrance tumour necrosis factor receptor-associated periodic syndrome and cryopyrin-associated periodic syndrome mutationsIsabelle Touitou, Carmen Perez, Bruno Dumont — 2006
• Familial Mediterranean fever with a single MEFV mutation: Where is the second hit?Matthew G. Booty, Jae Jin Chae, Seth L. Masters — 2009
• Clinical disease among patients heterozygous for familial Mediterranean fever.Dina Marek‐Yagel, Yackov Berkun, Shai Padeh — 2009
• Overlap of Familial Mediterranean Fever and Hyper-IgD Syndrome in an Arabic KindredTaha Moussa, B Aladbe, Rowaida Z. Taha — 2015
• The genetic basis of autosomal dominant familial Mediterranean fever.David Booth — 2000
• The Risk of Familial Mediterranean Fever in MEFV Heterozygotes: A Statistical ApproachIsabelle Jéru, Véronique Hentgen, Emmanuelle Cochet — 2013
• Long-Term Clinical Profile of Children With the Low-Penetrance R92Q Mutation of the TNFRSF1A GeneMA Pelagatti, A. Meini, Roberta Caorsi — 2011
• Familial Mediterranean fever associated pyrin mutations in GreeceKostas Konstantopoulos, A Kanta, C Deltas — 2003
• Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular PathologySue Richards, Nazneen Aziz, Sherri J. Bale — 2015

Cited by

• Successful use of tocilizumab in two cases of severe autoinflammatory disease with a single copy of the Mediterranean fever gene.Elena Nikiphorou, Vassos Neocleous, Leonidas A. Phylactou — 2017
• No shortcuts: new findings reinforce why nuance is the rule in genetic autoinflammatory syndromesPaul Tsoukas, Scott Canna — 2017
• Digenic inheritance and genetic modifiersConstantinos Deltas — 2018
• Screening of the most common MEFV mutations in a large cohort of Egyptian patients with Familial Mediterranean feverWaheba A. Zarouk, Hala T. El‐Bassyouni, Abeer Ramadan — 2018
• Adults with septic shock and extreme hyperferritinemia exhibit pathogenic immune variationKate F. Kernan, Lina Ghaloul‐Gonzalez, Bita Shakoory — 2018
• Genotype Is Associated to the Degree of Virilization in Patients With Classic Congenital Adrenal HyperplasiaVassos Neocleous, Pavlos Fanis, Leonidas A. Phylactou — 2018
• Autoinflammatory disease with focus on NOD2-associated disease in the era of genomic medicineQingping Yao, Ellen Li, Bo Shen — 2019
• Current and future advances in genetic testing in systemic autoinflammatory diseasesOskar Schnappauf, Ivona Aksentijevich — 2019
• GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings in ANOS1, RNF216, WDR11, FGFR1, CHD7, and POLR3A Genes in a Case Series and Review of the LiteratureVassos Neocleous, Pavlos Fanis, Meropi Toumba — 2020
• Genome sequencing unveils mutational landscape of the familial Mediterranean fever: Potential implications of IL33/ST2 signallingMeenakshi Umar, André Mégarbané, Jingxuan Shan — 2020
• Computational Modeling of NLRP3 Identifies Enhanced ATP Binding and Multimerization in Cryopyrin-Associated Periodic SyndromesJenny Mae Samson, Dinoop Ravindran Menon, Prasanna K. Vaddi — 2020
• Late diagnosis of 3β-Hydroxysteroid dehydrogenase deficiency: the pivotal role of gas chromatography-mass spectrometry urinary steroid metabolome analysis and a novel homozygous nonsense mutation in the HSD3B2 genePavlos Fanis, Vassos Neocleous, K Kośta — 2020
• Novel Germline TET2 Mutations in Two Unrelated Patients with Autoimmune Lymphoproliferative Syndrome-Like Phenotype and Hematologic MalignancyMarta López-Nevado, Javier Ortíz, Cristina Serrano — 2022
• A family case of a rare autoinflammatory disease associated with mutations in the NLRP3 and TNFRSF1A genes in the practice of a rheumatologistYu. D. Kurochkina, М. А. Королев, E. A. Letyagina — 2023
• Results of molecular genetic testing in 115 patients with suspected monogenic autoinflammatory diseaseM. F. Beketova, S. O. Salugina, E. S. Fedorov — 2026

Related papers

• [Familial Mediterranean fever: MEFV gene mutations and treatment].Megumu K. Saito, Ryuta Nishikomori, Naotomo Kambe — 2007
• PW01-037 – Amyloidosis probability depending on MEFV typeA. Simonyan, A. Ayvazyan, V. Vardanyan — 2013
• Prevalence and significance of the familial Mediterranean fever gene mutation encoding pyrin Q148.David R. Booth — 2001
• P02-018 - PSTPIP1 gene mutations in periodic fever patientsKazuhiko Takabe, Yoshiki Adachi, Hiroaki Saito — 2013
• PP-140 Evaluation of Tp-e Interval and Tp-e/QT Ratio in Patients with Familial Mediterranean FeverKayıhan Karaman, Metin Karayakalı, Ertuğrul Sağlam — 2016
• Prevalence of Mediterranean fever gene mutations in clinically suspected FMF patients in AlgeriaDjouher Ait‐Idir, Faiza Bouldjennet, Rowaida Z. Taha — 2015
• Investigation of the inflammatory cell migration process in familial Mediterranean feverYZ Akkaya Ulum, Edibe Avcı, Ezgi Deniz Batu — 2015
• The role of genotype in Familial Mediterranean FeverSemanur Özdel, Zeynep Birsin Özçakar, Seda Şahin — 2014
• Pyrin-associated autoinflammatory disease with p.Thr577Ala MEFV somatic mutation.Alexandre Terré, Flora Magnotti, Jean-Maxime Piot — 2023
• MEFV Mutations in Cases with Familial Mediterranean Fever (FMF)Elif Yeşilada, Serap Savacı, Şengül Yüksel — 2005