Further phenotypic heterogeneity of CoQ10 deficiency associated with Steroid Resistant Nephrotic Syndrome and novel COQ2 and COQ6 variants

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Abstract

We descripe three patients with SRNS associated with pathogentic changes in two CoQ pathway genes: one novel homozygous COQ2 variant was identified in two cousins with adolescent-onset SRNS and mild neurological symptoms (Family 1); and one novel COQ6 variant was found in a child with early onset SRNS without deafness and neurological involvement (Family 2). (A, B) : families (C) : Sanger sequencing showing COQ2 change: NM_015697.7: c.1169G>C; NP_056512.5; p.Gly390Ala (c.1019G>C; p.Gly340Ala, according to KU877220 GenBank sequence) (D) : Sanger sequencing showing COQ6 change: NM_182476.2:c.782C>T; NP_872282.1:p.Pro261Leu.

Autore Pugliese

Tutti gli autori

  • GESUALDO L.;ACCETTURO M.

Titolo volume/Rivista

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Anno di pubblicazione

2017

ISSN

0009-9163

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Codici ASJC

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