Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study

De Pieri, Carlo; Vuch, Josef; De Martino, Eleonora; Bianco, Anna M; Ronfani, Luca; Athanasakis, Emmanouil; Bortot, Barbara; Crovella, Sergio; Taddio, Andrea; Severini, Giovanni M; Tommasini, Alberto

doi:10.1186/s12969-015-0006-z

Pediatric Rheumatology

Table 2 Genotypes and interpretation of patients with uncertain genetic results

From: Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study

	GENE/cDNA accession	rs ID/mutation	MAF (1000 g)	Interpretation
1	NLRP12/NM_144687.2	rs141245482/c.910C > T H304Y	< 0.01	Single mutations of uncertain significance
2	NLRP3/NM_001079821.2	rs142651552/c.2024G > A Q705K
3	NLRP12/NM_144687.2	rs34971363/c.1206C > G; F402L	0.03
4	NLRP12/NM_144687.2	rs34971363/c.1206C > G; F402L	0.03
5	NLRP12/NM_144687.2	rs34971363/c.1206C > G; F402L	0.03
6	NLRP3/NM_001079821.2	rs142651552/c.2024G > A Q705K
7	TNFRS1A/NM_001065.3	rs4149584/c.362G > A; R121Q	0.01
8	NLRP12/NM_144687.2	rs34971363/c.1206C > G; F402L	0.03
9	NLRP12/NM_144687.2	rs34971363/c.1206C > G; F402L	0.03
10	NLRP12/NM_144687.2	rs34971363F/c.1206C > G; F402L	0.03
11	TNFRS1A/NM_001065.3	rs4149584/c.362G > A; R121Q	0.01
1	MEFV/NM_000243.2	rs224222/c.602G > A; R202Q	0.17	Multiple mutations of uncertain significance
1	MEFV/NM_000243.2	rs224222/c.602G > A; R202Q*	0.17
2	MVK/NM_000431.2	rs7957619/c. 155G > A S52N	0.09
2	MVK/NM_000431.2	rs7957619/c. 155G > A S52N	0.09
3	NLRP12/NM_144687.2	rs34971363/c.1206C > G; F402L	0.03
	NLRP3/NM_001079821.2	rs142651552/c.2024G > A; Q705K	NA
	MEFV/NM_000243.2	rs224222/c.602G > A; R202Q	0.17
	MVK/NM_000431.2	rs7957619/c. 155G > A S52N	0.09
4	NLRP12/NM_144687.2	rs34971363/c.1206C > G; F402L	0.03
4	MEFV/NM_000243.2	rs224222/c.602G > A R202Q	0.17
5	NLRP3/NM_001079821.2	rs142651552/c.2024G > A Q705K	0.17
5	MEFV/NM_000243.2	rs224222/c.602G > A R202Q	0.17
6	NLRP3/NM_001079821.2	rs142651552/c.2024G > A Q705K	0.02
	MEFV/NM_000243.2	rs11466023/c.1105C > T; P369S	0.02
	MEFV/NM_000243.2	rs11466024/c.1223G > A; R408Q	0.02
1	MEFV/NM_000243.2	rs61732874/c.2230G > T; A744S	<0.01	Heterozygous mutations associated with autosomal recessive disorders
2	MEFV/NM_000243.2	rs3743930/c.442G > C E148Q	0.08
3	MEFV/NM_000243.2	rs11466045/c.1772T > C; I591T	0.01
4	MEFV/NM_000243.2	rs224222/c.602G > A R202Q	0.17
	MEFV/NM_000243.2	rs61752717/c.2080A > G M694V	0.09
	MVK/NM_000431.2	rs7957619/c. 155G > A S52N	0.09
5	MEFV/NM_000243.2	rs3743930/c.442G > C E148Q	0.08
5	MEFV/NM_000243.2	rs224222/c.602G > A R202Q	0.17
6	NLRP12/NM_144687.2	rs34436714 c.116G > T; G39V	0.25
6	MVK/NM_000431.2	rs28934897 c.1129G > A V377I	0.25
7	MEFV/NM_000243.2	rs224222/c.602G > A R202Q	0.17
7	MVK/NM_000431.2	rs28934897 c.1129G > A V377I	0.17

*Although hetherozygous R202Q variant in MEFV is considered a common polymorphism not to be reported, the same variant in homozygosis has been associated to cases of Familial Mediterranean Fever in Greece [32].

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ISSN: 1546-0096

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