Missense PDSS1 mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness

被引：11

作者：

Nardecchia, Francesca ^{[1
]}

De Giorgi, Agnese ^{[1
]}

Palombo, Flavia ^{[2
]}

Fiorini, Claudio ^{[2
]}

De Negri, Anna M. ^{[3
]}

Carelli, Valerio ^{[2
,4
]}

Caporali, Leonardo ^{[2
]}

Leuzzi, Vincenzo ^{[5
]}

机构：

[1] Sapienza Univ Rome, Dept Human Neurosci, Div Child Neurol & Infantile Psychiat, Rome, Italy

[2] Bellaria Hosp, IRCCS Ist Sci Neurolog Bologna, Bologna, Italy

[3] Azienda Osped San Camillo Forlanini, Rome, Italy

[4] Univ Bologna, Dept Biomed & NeuroMotor Sci DIBINEM, Unit Neurol, Bologna, Italy

[5] Univ Roma Sapienza, Dept Human Neurosci, Rome, Italy

来源：

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY | 2021年 / 8卷 / 01期

关键词：

COQ2; DYSFUNCTION;

D O I：

10.1002/acn3.51232

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

CoenzymeQ10 is one of the main cellular antioxidants and an essential lipid involved in numerous cell reactions, such as energy production and apoptosis modulation. A large number of enzymes are involved in CoQ10 biosynthesis. Mutations in the genes encoding for these enzymes cause a CoQ10 deficiency, characterized by neurological and systemic symptoms. Here we describe two young sisters with sensorineural deafness followed by optic atrophy, due to a novel homozygous pathogenic variant in PDSS1. The visual system seems to be mainly involved when the first steps of CoQ10 synthesis are impaired (PDSS1, PDSS2, and COQ2 deficiency).

引用

页码：247 / 251

页数：5

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