skip to main content
Idioma:

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

Correa‐Silva, Silvia R. ; Kunii, Ilda ; Mitne‐Neto, Miguel ; Moreira, Caroline M. ; Dias‐da‐Silva, Magnus R. ; Abucham, Julio

Journal of neuroendocrinology, 2023-01, Vol.35 (1), p.e13221-n/a [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

Texto completo disponível

Citações Citado por
  • Título:
    Copy number variation in pituitary stalk interruption syndrome: A large case series of sporadic non‐syndromic patients and literature review
  • Autor: Correa‐Silva, Silvia R. ; Kunii, Ilda ; Mitne‐Neto, Miguel ; Moreira, Caroline M. ; Dias‐da‐Silva, Magnus R. ; Abucham, Julio
  • Assuntos: Case reports ; Central nervous system ; Chromosome 17 ; Chromosome 18 ; Chromosome deletion ; Comparative Genomic Hybridization - methods ; congenital hypopituitarism ; Copy number ; copy number variation ; DNA Copy Number Variations - genetics ; ectopic posterior pituitary ; Humans ; Hybridization ; Hypopituitarism ; Hypopituitarism - diagnosis ; Hypopituitarism - genetics ; Hypopituitarism - pathology ; Hypothalamus ; Karyotypes ; Literature reviews ; Magnetic resonance imaging ; Oligonucleotides ; Pituitary (posterior) ; Pituitary Diseases - genetics ; Pituitary Gland - diagnostic imaging ; Pituitary Gland - pathology ; pituitary stalk interruption syndrome ; Syndrome
  • É parte de: Journal of neuroendocrinology, 2023-01, Vol.35 (1), p.e13221-n/a
  • Notas: Funding information
    Fundação de Amparo à Pesquisa do Estado de São Paulo, Grant/Award Numbers: 2015/26913‐8, 2021/00684‐3; Research Foundation; Coordenação de Aperfeiçoamento de Pessoal de Nível Superior; Research and Development; Conselho Nacional de Desenvolvimento Científico e Tecnológico
    ObjectType-Article-2
    SourceType-Scholarly Journals-1
    ObjectType-Feature-3
    content type line 23
    ObjectType-Review-1
  • Descrição: 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. Pituitary development takes place from two embryonal apposed ectodermal tissues. The anterior pituitary (AP), so‐called adenohypophysis, forms from an upward protrusion of the epithelium of the roof of the mouth (Rathke's pouch, Rp) that extends toward the posterior pituitary (PP), or neurohypophysis, which grows downward by a ventral evagination from the diencephalon (de) of the developing brain. PP is attached to the infundibular (inf) stalk, which arises from an anlage in the floor of the third ventricle. Ectopic posterior pituitary (EPP) is the hallmark of pituitary stalk interruption syndrome (PSIS), which is mainly associated with AP endocrine defects because of its early neural induction of the Rp. However, pituitary‐development single‐gene mutations explain less than 5% of the cases, and whole exome sequencing still presents heterogeneous results. Our findings demonstrate the contribution of searching for copy number variation (CNV) using array‐based comparative genomic hybridization (aCGH) in patients with PSIS, suggesting that CNV can be an additional mechanism of developmental abnormality in non‐syndromic patients with congenital hypopituitarism and ectopic posterior pituitary.
  • Editor: United States: Wiley Subscription Services, Inc
  • Idioma: Inglês
Links
Voltar para lista de resultados
Ir para página anteriorAnterior Resultado  4 AvançarIr para próxima página

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

Buscando em bases de dados remotas. Favor aguardar.