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首页> 外文期刊>Human mutation >Mutations in the gene PDE6C PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia
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Mutations in the gene PDE6C PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia

机译：基因PDE6C PDE6C中的突变编码锥形感光体磷酸二磷酸酯酶的催化亚基，患者患者患者

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摘要

Abstract Biallelic PDE6C mutations are a known cause for rod monochromacy, better known as autosomal recessive achromatopsia (ACHM), and early‐onset cone photoreceptor dysfunction. PDE6C encodes the catalytic α′‐subunit of the cone photoreceptor phosphodiesterase, thereby constituting an essential part of the phototransduction cascade. Here, we present the results of a study comprising 176 genetically preselected patients who remained unsolved after Sanger sequencing of the most frequent genes accounting for ACHM, and were subsequently screened for exonic and splice site variants in PDE6C applying a targeted next generation sequencing approach. We were able to identify potentially pathogenic biallelic variants in 15 index cases. The mutation spectrum comprises 18 different alleles, 15 of which are novel. Our study significantly contributes to the mutation spectrum of PDE6C and allows for a realistic estimate of the prevalence of PDE6C mutations in ACHM since our entire ACHM cohort comprises 1,074 independent families.
机译：摘要Biallelic PDE6C突变是杆单色的已知原因，更好地称为常染色体隐性achromatopsia（ACHM），以及早起的锥形光感受器功能障碍。 PDE6C编码锥形光感受体磷酸二酯酶的催化α'-亚基，从而构成光电颅级级联的主要部分。在这里，我们介绍了包含176名遗传预选患者的研究结果，该患者在Sanger测序核对achm的最常见基因的序列后保持未解决，随后在PDE6C中筛选施用靶向下一代测序方法的偏振和接头位点变体。我们能够在15个指标案例中识别潜在的致病性双峰变体。突变谱包含18种不同的等位基因，其中15个是新的。我们的研究显着促进了PDE6C的突变谱，并且由于我们的整个ACHM队列包括1,074个独立的家庭，因此允许对ACHM中PDE6C突变的患病率的现实估计。

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  • 来源
    《Human mutation》 |2018年第10期|共6页
  • 作者

    Weisschuh Nicole; Stingl Katarina; Audo Isabelle; Biskup Saskia; Bocquet Béatrice; Branham Kari; Burstedt Marie S; Baere Elfride; Vries Meindert J; Golovleva Irina; Green Andrew; Heckenlively John; Leroy Bart P; Meunier Isabelle; Traboulsi Elias; Wissinger Bernd; Kohl Susanne;

  • 作者单位

    Institute for Ophthalmic ResearchUniversity TuebingenTuebingen Germany;

    Institute for Ophthalmic ResearchUniversity TuebingenTuebingen Germany;

    Sorbonne UniversitésInstitut de la VisionParis France;

    CeGaT GmbH and Praxis fuer Humangenetik TuebingenTuebingen Germany;

    Institute for Neurosciences of Montpellier INSERM U1051University of MontpellierMontpellier France;

    Department of Ophthalmology and Visual Sciences University of MichiganAnn Arbor Michigan;

    Department of Clinical Sciences/OphthalmologyUniversity of UmeaUmea Sweden;

    Center for Medical GeneticsGhent University and Ghent University HospitalGhent Belgium;

    Department of OphthalmologyChildrens' Hospital Queen Fabiola (Huderf)Brussels Belgium;

    Department of Medical Biosciences/Medical and Clinical GeneticsUniversity of UmeaUmea Sweden;

    Department of Clinical GeneticsDublin Ireland;

    Department of Ophthalmology and Visual Sciences University of MichiganAnn Arbor Michigan;

    Center for Medical GeneticsGhent University and Ghent University HospitalGhent Belgium;

    Institute for Neurosciences of Montpellier INSERM U1051University of MontpellierMontpellier France;

    Cole Eye InstituteCleveland ClinicCleveland Ohio;

    Institute for Ophthalmic ResearchUniversity TuebingenTuebingen Germany;

    Institute for Ophthalmic ResearchUniversity TuebingenTuebingen Germany;

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  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类 医学遗传学;
  • 关键词

    achromatopsia; cone phosphodiesterase; mutation spectrum and prevalence; PDE6C;

    机译：Chromatopsia;锥形磷酸二酯酶;突变谱和患病率;PDE6C;

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