Implementacion de un panel de genes para el diagnostico genetico de la discinesia ciliar primaria

被引：10

作者：

Baz-Redon, Noelia ^{[1
,2
]}

Rovira-Amigo, Sandra ^{[1
,2
,3
]}

Paramonov, Ida ^{[1
,4
]}

Castillo-Corullon, Silvia ^{[5
]}

Cols Roig, Maria ^{[6
,7
]}

Antolin, Maria ^{[1
,4
]}

Garcia Arumi, Elena ^{[1
,4
,8
]}

Torrent-Vernetta, Alba ^{[1
,2
,3
]}

de Mir Messa, Ines ^{[1
,3
]}

Gartner, Silvia ^{[1
,3
]}

Iglesias Serrano, Ignacio ^{[1
,3
]}

Araceli Caballero-Rabasco, M. ^{[9
]}

Asensio de la Cruz, Oscar ^{[10
]}

Vizmanos-Lamotte, Gerardo ^{[11
]}

Martin de Vicente, Carlos ^{[12
]}

del Mar Martinez-Colls, Maria ^{[13
]}

Reula, Ana ^{[14
]}

Escribano, Amparo ^{[5
,15
]}

Dasi, Francisco ^{[15
,16
]}

Armengot-Carceller, Miguel ^{[14
,17
,18
]}

Polverino, Eva ^{[1
,19
]}

Amengual Pieras, Esther ^{[20
]}

Amaro-Rodriguez, Rosanel ^{[21
]}

Garrido-Pontnou, Marta ^{[22
]}

Tizzano, Eduardo ^{[1
,4
]}

Camats-Tarruella, Nuria ^{[1
,8
]}

Fernandez-Cancio, Monica ^{[1
,8
]}

Moreno-Galdo, Antonio ^{[1
,2
,3
,8
]}

机构：

[1] Hosp Univ Vall dHebron, Vall dHebron Inst Recerca VHIR, Barcelona, Spain

[2] Univ Autonoma Barcelona, Dept Pediat Obstet Ginecol Med Prevent & Salud Pu, Barcelona, Spain

[3] Hosp Univ Vall dHebron, Secc Alergol Pediat Neumol Pediat & Fibrosis Quis, Barcelona, Spain

[4] Hosp Univ Vall dHebron, Area Genet Clin & Mol, Barcelona, Spain

[5] Univ Valencia, Hosp Clin Univ Valencia, Unidad Neumol Pediat, Valencia, Spain

[6] Hosp St Joan de Deu, Secc Neumol Infantil, Barcelona, Spain

[7] Hosp St Joan de Deu, Unidad Fibrosis Quist, Barcelona, Spain

[8] Inst Salud Carlos III ISCIII, CIBERER, CIBER Enfermedades Raras, Madrid, Spain

[9] Hosp del Mar, Unidad Neumol Pediat, Barcelona, Spain

[10] Hosp Parc Tauli, Unidad Neumol Pediat, Barcelona, Spain

[11] Pole Pediat Cerdagne ALEFPA, Serv Pediat, Osseja, France

[12] Hosp Miguel Servet, Unidad Neumol Pediat, Zaragoza, Spain

[13] Hosp Badalona Germans Trias & Pujol, Unidad Neumol Pediat, Barcelona, Spain

[14] Univ Valencia, IIS La Fe, Grp Biomed Mol Celular & Genom, Valencia, Spain

[15] Univ Valencia, Dept Fisiol, Valencia, Spain

[16] Inst Invest Sanitaria INCLIVA, UCIM, Valencia, Spain

[17] Hosp Univ & Politecn La Fe, Serv Otorrinolaringol, Valencia, Spain

[18] Inst Salud Carlos III ISCIII, CIBERES, CIBER Enfermedades Resp, Madrid, Spain

[19] Hosp Univ Vall dHebron, Serv Neumol, Barcelona, Spain

[20] Hosp Son Llatzer, Palma De Mallorca, Baleares, Spain

[21] Hosp Clin Barcelona, Serv Neumol, Barcelona, Spain

[22] Hosp Univ Vall dHebron, Serv Anat Patol, Barcelona, Spain

来源：

ARCHIVOS DE BRONCONEUMOLOGIA | 2021年 / 57卷 / 03期

关键词：

Primary ciliary dyskinesia; Massive sequencing; Gene panel; High-speed optical video microscopy; Electron microscopy; SEQUENCE VARIANTS; DYSKINESIA; MUTATIONS; DEFECTS; COMPLEX; OUTER; RANDOMIZATION; GUIDELINES; INSIGHTS; CCDC39;

D O I：

10.1016/j.arbres.2020.02.010

中图分类号：

R56 [呼吸系及胸部疾病];

学科分类号：

摘要：

Introduction: Primary ciliary dyskinesia (PCD) is characterized by an alteration in the ciliary structure causing difficulty in the clearance of respiratory secretions. Diagnosis is complex and based on a combination of techniques. The objective of this study was to design a gene panel including all known causative genes, and to corroborate their diagnostic utility in a cohort of Spanish patients. Methods: This was a multicenter cross-sectional study of patients with a high suspicion of PCD, according to European Respiratory Society criteria, designed around a gene panel for massive sequencing using SeqCap EZ capture technology that included 44 genes associated with PCD. Results: We included 79 patients, 53 of whom had a diagnosis of confirmed or highly probable PCD. The sensitivity of the gene panel was 81.1%, with a specificity of 100%. Candidate variants were found in some of the genes of the panel in 43 patients with PCD, 51.2% (22/43) of whom were homozygotes and 48.8% (21/43) compound heterozygotes. The most common causative genes were DNAH5 and CCDC39. We found 52 different variants, 36 of which were not previously described in the literature. Conclusions: The design and implementation of a tailored gene panel produces a high yield in the genetic diagnosis of PCD. This panel provides a better understanding of the causative factors involved in these patients and lays down the groundwork for future therapeutic approaches. (c) 2020 SEPAR. Published by Elsevier Espa & ntilde;a, S.L.U. All rights reserved.

引用

页码：186 / 194

页数：9

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