Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency

Veldman Bram C. F.; Kuper Willemijn F. E.; Lilien Marc; Schuurs-Hoeijmakers Janneke H. M.; Marcelis Carlo; Phan Milan; Hettinga Ymkje; Talsma Herman E.; van Hasselt Peter M.; Haijes Hanneke A.

首页> 外文期刊>American journal of medical genetics, Part A >Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency

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Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency

机译：除肾肾功能缺乏之外：在儿童时期肾功能障碍的情况下，视网膜营养不良扩大了Cep83缺乏的临床谱

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The CEP83 protein is an essential part in the first steps of ciliogenesis, causing a ciliopathy if deficient. As a core component of the distal appendages of the centriole, CEP83 is located in almost all cell types and is involved in the primary cilium assembly. Previously reported CEP83 deficient patients all presented with nephronophthisis and kidney dysfunction. Despite retinal degeneration being a common feature in ciliopathies, only one patient also had retinitis. Here, we present two unrelated patients, who both presented with retinitis pigmentosa, without nephronophthisis or any form of kidney dysfunction. Both patients harbor bi-allelic variants in CEP83. This report expands the current clinical spectrum of CEP83 deficiency. For timely diagnosis of CEP83 deficiency, we advocate that CEP83 should be included in gene panels for inherited retinal diseases.

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《American journal of medical genetics, Part A》 |2021年第7期|共7页
作者
Veldman Bram C. F.; Kuper Willemijn F. E.; Lilien Marc; Schuurs-Hoeijmakers Janneke H. M.; Marcelis Carlo; Phan Milan; Hettinga Ymkje; Talsma Herman E.; van Hasselt Peter M.; Haijes Hanneke A.;
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作者单位

Univ Med Ctr Utrecht Wilhelmina Childrens Hosp Dept Metab Dis Lundlaan 6 NL-3584 AE Utrecht;

Univ Med Ctr Utrecht Wilhelmina Childrens Hosp Dept Metab Dis Lundlaan 6 NL-3584 AE Utrecht;

Univ Med Ctr Utrecht Wilhelmina Childrens Hosp Dept Pediat Nephrol Utrecht Netherlands;

Radboud Univ Nijmegen Dept Clin Genet Med Ctr Nijmegen Netherlands;

Radboud Univ Nijmegen Dept Clin Genet Med Ctr Nijmegen Netherlands;

Radboud Univ Nijmegen Dept Ophthalmol Med Ctr Nijmegen Netherlands;

Bartimeus Diagnost Ctr Complex Visual Disorders Zeist Netherlands;

Bartimeus Diagnost Ctr Complex Visual Disorders Zeist Netherlands;

Univ Med Ctr Utrecht Wilhelmina Childrens Hosp Dept Metab Dis Lundlaan 6 NL-3584 AE Utrecht;

Univ Med Ctr Utrecht Wilhelmina Childrens Hosp Dept Metab Dis Lundlaan 6 NL-3584 AE Utrecht;

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正文语种 eng
中图分类医学遗传学;
关键词
CEP83; ciliopathy; retinal dystrophy; retinitis pigmentosa;

机译：cep83;皮尼病;视网膜营养不良;视网膜炎pigmentosa;

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3. Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders [J] . Al-Maawali Almundher, Dupuis Lucie, Blaser Susan, European journal of human genetics: EJHG . 2015,第3期

机译：产前生长受限，视网膜营养不良，尿崩症和白质病：扩大PRPS1相关疾病的范围
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机译：双层RP1相关视网膜营养不良：扩大突变和临床光谱
9. Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency [O] . Bram C. F. Veldman, Willemijn F. E. Kuper, Marc Lilien, 2021

机译：除肾肾小管炎外：在儿童时期肾功能障碍的情况下，视网膜营养不良扩大了Cep83缺乏的临床谱

Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency

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