دورية أكاديمية
أعرض في EDS

Diagnostic yield of clinical exome sequencing in congenital hypogonadotropic hypogonadism considering the degree of olfactory impairment.

التفاصيل البيبلوغرافية
العنوان: Diagnostic yield of clinical exome sequencing in congenital hypogonadotropic hypogonadism considering the degree of olfactory impairment.
المؤلفون: Ortiz-Cabrera NV; Servicio de Genética, Hospital Infantil Universitario Niño Jesús, Madrid, Spain., Gavela-Pérez T; Servicio de Pediatría, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid, Spain., Mejorado-Molano FJ; Servicio de Pediatría, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid, Spain., Santillán-Coello JM; Servicio de Otorrinolaringología, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid, Spain., Villacampa-Aubá JM; Servicio de Otorrinolaringología, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid, Spain., Trujillo-Tiebas MJ; Servicio de Genética, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid, Spain., Soriano-Guillén L; Servicio de Pediatría, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid, Spain. Electronic address: leandro.soriano@uam.es.
المصدر: Anales de pediatria [An Pediatr (Engl Ed)] 2022 Oct; Vol. 97 (4), pp. 247-254. Date of Electronic Publication: 2021 Jul 05.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Elsevier Country of Publication: Spain NLM ID: 101765626 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2341-2879 (Electronic) Linking ISSN: 23412879 NLM ISO Abbreviation: An Pediatr (Engl Ed) Subsets: MEDLINE
أسماء مطبوعة: Original Publication: [Barcelona] : Elsevier
مواضيع طبية MeSH: Hypogonadism*/diagnosis , Hypogonadism*/genetics , Olfaction Disorders*/genetics, Exome ; Humans ; Mutation ; Exome Sequencing
مستخلص: Introduction: Congenital hypogonadotropic hypogonadism (CHH) can present alone or in association with anosmia or other congenital malformations. More than 30 genes have been identified as being involved in the pathogenesis of CHH with different patterns of inheritance, and the increasing availability of next generation sequencing (NGS) has increased the diagnostic yield.
Methods: We analysed the diagnostic yield of NGS in patients with CHH using the clinical exome filtered with virtual panels. We also assessed whether designing panels based on the presence/absence of microsmia increased the diagnostic yield.
Results: The use of a 34-gene virtual panel confirmed the diagnosis of CHH in 5 out of 9 patients (55%) patients. In 2 out of 9 (22%), the findings were inconclusive. Applying the presence/absence of microsmia criterion to choose genes for analysis did not improve the diagnostic yield.
Conclusions: The approach to the genetic study of patients with CHH varies depending on the resources of each healthcare facility, so the sensitivity of testing may vary substantially depending on whether panels, clinical exome sequencing or whole exome sequencing (WES) are used. The analysis of all genes related to CHH regardless of the presence/absence of microsmia seems to be the best approach.
(Copyright © 2021. Published by Elsevier España, S.L.U.)
فهرسة مساهمة: Keywords: Clinical exome sequencing; Hipogonadismo hipogonadotropo; Hypogonadotropic hypogonadism; Kallmann syndrome; Pubertal delay; Retraso puberal; Secuenciación del exoma clínico; Síndrome de Kallmann
تواريخ الأحداث: Date Created: 20210709 Date Completed: 20221011 Latest Revision: 20221207
رمز التحديث: 20221213
DOI: 10.1016/j.anpede.2021.06.003
PMID: 34238712
قاعدة البيانات: MEDLINE
الوصف
تدمد:2341-2879
DOI:10.1016/j.anpede.2021.06.003