دورية أكاديمية
أعرض في EDS

Copy number variation in pituitary stalk interruption syndrome: A large case series of sporadic non-syndromic patients and literature review.

التفاصيل البيبلوغرافية
العنوان: Copy number variation in pituitary stalk interruption syndrome: A large case series of sporadic non-syndromic patients and literature review.
المؤلفون: Correa-Silva SR; Neuroendocrinology Unit, Division of Endocrinology and Metabolism, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil.; Laboratory of Molecular and Translational Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil., Kunii I; Laboratory of Molecular and Translational Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil., Mitne-Neto M; Research and Development, Fleury Group, São Paulo, Brazil., Moreira CM; Research and Development, Fleury Group, São Paulo, Brazil., Dias-da-Silva MR; Laboratory of Molecular and Translational Endocrinology, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil., Abucham J; Neuroendocrinology Unit, Division of Endocrinology and Metabolism, Department of Medicine, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil.
المصدر: Journal of neuroendocrinology [J Neuroendocrinol] 2023 Jan; Vol. 35 (1), pp. e13221. Date of Electronic Publication: 2022 Dec 10.
نوع المنشور: Review; Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Wiley & Sons Country of Publication: United States NLM ID: 8913461 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2826 (Electronic) Linking ISSN: 09538194 NLM ISO Abbreviation: J Neuroendocrinol Subsets: MEDLINE
أسماء مطبوعة: Publication: <2010->: Malden, MA : Wiley & Sons
Original Publication: Eynsham, Oxon, UK : Oxford University Press, c1989-
مواضيع طبية MeSH: Pituitary Diseases*/genetics , Hypopituitarism*/genetics , Hypopituitarism*/diagnosis , Hypopituitarism*/pathology, Humans ; DNA Copy Number Variations/genetics ; Comparative Genomic Hybridization/methods ; Syndrome ; Pituitary Gland/diagnostic imaging ; Pituitary Gland/pathology
مستخلص: Abnormal hypothalamic/posterior pituitary development appears to be a major determinant of pituitary stalk interruption syndrome (PSIS). The observation of familial cases and associated congenital abnormalities suggests a genetic basis. Single-gene mutations explain less than 5% of the cases, and whole exome sequencing has shown heterogeneous results. The present study aimed to assess copy number variation (CNV) using array-based comparative genomic hybridization (aCGH) in patients with non-syndromic PSIS and comprehensively review data from the literature on CNV analysis in congenital hypopituitarism (CH) patients. Twenty-one patients with sporadic CH from our outpatient clinics presented with ectopic posterior pituitary (EPP) and no central nervous system abnormalities on magnetic resonance image (MRI) or any other malformations on physical examination at presentation were enrolled in the study. aCGH using a whole-genome customized 400K oligonucleotide platform was performed in our patients. For the literature review, we searched for case reports of patients with CH and CNV detected by either karyotype or aCGH reported in PubMed up to November 2021. Thirty-five distinct rare CNVs were observed in 18 patients (86%) and two of them (6%) were classified as pathogenic: one deletion of 1.8 Mb in chromosome 17 (17q12) and one deletion of 15 Mb in chromosome 18 (18p11.32p11.21), each one in a distinct patient. In the literature review, 67 pathogenic CNVs were published in 83 patients with CH, including the present study. Most of these patients had EPP (78% out of the 45 evaluated by sellar MRI) and were syndromic (70%). The most frequently affected chromosomes were X, 18, 20 and 1. Our study has found that CNV can be a mechanism of genetic abnormality in non-syndromic patients with CH and EPP. In future studies, one or more genes in those CNVs, both pathogenic and variant of uncertain significance, may be considered as good candidate genes.
(© 2022 British Society for Neuroendocrinology.)
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فهرسة مساهمة: Keywords: congenital hypopituitarism; copy number variation; ectopic posterior pituitary; pituitary stalk interruption syndrome
تواريخ الأحداث: Date Created: 20221210 Date Completed: 20230201 Latest Revision: 20230210
رمز التحديث: 20231215
DOI: 10.1111/jne.13221
PMID: 36495109
قاعدة البيانات: MEDLINE
الوصف
تدمد:1365-2826
DOI:10.1111/jne.13221