Nephrotic syndrome and mitochondrial disorders: answers

被引：1

作者：

Bernardor, Julie ^{[1
]}

Faudeux, Camille ^{[1
]}

Chaussenot, Anabelle ^{[2
]}

Antignac, Corinne ^{[3
,4
]}

Goldenberg, Alice ^{[5
]}

Gubler, Marie Claire ^{[3
]}

Wagner, Nicole ^{[6
]}

Berard, Etienne ^{[1
]}

机构：

[1] CHU Nice Hop Archet, Unite Nephrol Pediat, 151 Route St Antoine Ginestiere,BP 23079, F-06202 Nice 3, France

[2] CHU Nice Hop Archet, Serv Genet Med, 151 Route St Antoine Ginestiere,BP 23079, F-06202 Nice 3, France

[3] Inst Imagine, Lab Malad Renales Hereditaires 1 INSERM UMR, 24 Blvd Montparnasse, F-75015 Paris, France

[4] Hop Necker Enfants Malad, Assistance Publ Hop Paris, Dept Genet, Reference Ctr Hereditary Kidney Dis MARHEA, F-75015 Paris, France

[5] CHU Rouen, Unite Genet Clin, 1 Rue Germont, F-76031 Rouen, France

[6] Univ Cote Azur, CNRS, INSERM, IBV, F-06107 Nice, France

来源：

PEDIATRIC NEPHROLOGY | 2019年 / 34卷 / 08期

关键词：

Child; Mitochondrial disorder; Cardiomyopathy; Congenital nephrotic syndrome (CNF); NPHS1; mutation;

D O I：

10.1007/s00467-019-04217-7

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

In 2015, new genetic analysis in our patient (Pr C. Antignac – Institut IMAGINE – Paris) by next-generation sequencing (MiSeq® Illumina®) after multiplex PCR (FSGS MASTRV3 Multiplicom®) explored 30 genes responsible for cortico-resistant nephrotic syndromes (NS). Three pathogenic mutations in NPHS1 were found: (1) the formerly detected c.2014g>A (p.Ala672Thr) and two additional mutations of maternal inheritance: (2) a missense mutation c.1555C<T (p.Pro519ser); and (3) a splice site mutation in intron 15 (c.2072-6C>G). No mutations were found in other analyzed genes (in particular, genes encoding mitochondrial proteins: COQ2, COQ6, ADCK4/COQ8B, and PDSS2). Thus, the NS of our patient seems to be of the Finnish type (CNF). © IPNA 2019.

引用

页码：1375 / 1377

页数：3

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