Startseite Medizin Genomic study via chromosomal microarray analysis in a group of Romanian patients with obesity and developmental disability/intellectual disability
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Genomic study via chromosomal microarray analysis in a group of Romanian patients with obesity and developmental disability/intellectual disability

  • Diana Micleaa EMAIL logo , Camelia Al-Khzouza , Sergiu Osan , Simona Bucerzan , Victoria Cret , Radu Anghel Popp , Maria Puiu , Adela Chirita-Emandi , Cristian Zimbru und Cristina Ghervan
Veröffentlicht/Copyright: 31. Mai 2019
Journal of Pediatric Endocrinology and Metabolism
Aus der Zeitschrift Journal of Pediatric Endocrinology and Metabolism Band 32 Heft 7

Abstract

Background

Obesity with developmental disability/intellectual disability (DD/ID) is the most common association in syndromic obesity. Genomic analysis studies have allowed the decipherment of disease aetiology, both in cases of syndromic obesity as well as in cases of isolated or syndromic DD/ID. However, more data are needed to further elucidate the link between the two. The aim of this pangenomic study was to use single nucleotide polymorphism (SNP) array technology to determine the copy number variant (CNV) type and frequency associated with both obesity and DD/ID.

Methods

Thirty-six patients were recruited from the Clinical Emergency Hospital for Children, in Cluj-Napoca, Romania during the period 2015–2017. The main inclusion criterion was a diagnosis that included both obesity and DD/ID. Genomic analysis via SNP array technology was performed.

Results

Out of the 36 patients, 12 (33%) presented CNVs with a higher degree of pathogenicity (A group) and 24 (66%) presented benign CNVs (B group). The SNP array results for the A group were as follows: pathogenic CNVs in 8/12 patients (67%); variants of unknown significance (VOUS) in 2/12 patients (16%); and uniparental disomy (UPD) in 2/12 patients (16%).

Conclusions

Some of these CNVs have already been observed in patients with both obesity and DD/ID, but the others were noticed only in DD/ID patients and have not been described until now in association with obesity.

Keywords: copy number variants; developmental disability/intellectual disability; obesity
Corresponding author: Miclea Diana, MD, PhD, Assistant Professor, Department of Molecular Sciences, “Iuliu Haţieganu” University of Medicine and Pharmacy, 8, Victor Babes Street, 400012 Cluj-Napoca, Romania; and Clinical Emergency Hospital for Children, Cluj-Napoca, Romania, Phone: 0040745096965
aDiana Miclea and Camelia Al-Khzouz are co-first authors.

Acknowledgments

Diana Miclea would like to thank the “Iuliu Hatieganu” University of Medicine and Pharmacy of Cluj-Napoca (Diana Miclea, research grant 4944/24/08.03.2016) for the financial support of this article.

  1. Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

  2. Research funding: Internal Grant “Iuliu Hatieganu” University of Medicine and Pharmacy of Cluj-Napoca: 4944/24/08.03.2016.

  3. Employment or leadership: None declared.

  4. Honorarium: None declared.

  5. Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.

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Supplementary Material

The online version of this article offers supplementary material (https://doi.org/10.1515/jpem-2018-0439).

Received: 2018-10-09
Accepted: 2019-04-01
Published Online: 2019-05-31
Published in Print: 2019-07-26

©2019 Walter de Gruyter GmbH, Berlin/Boston

Artikel in diesem Heft

  1. Frontmatter
  2. Review
  3. Effect of safflower yellow on early type II diabetic nephropathy: a systematic review and meta-analysis of randomized controlled trials
  4. Original Articles
  5. Genomic study via chromosomal microarray analysis in a group of Romanian patients with obesity and developmental disability/intellectual disability
  6. Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey
  7. Assessment of retinal thickness as a marker of brain masculinization in children with congenital adrenal hyperplasia: a pilot study
  8. Auditory event-related potentials demonstrate early cognitive impairment in children with subclinical hypothyroidism
  9. Cardiovascular risk factors in children with type 1 diabetes mellitus
  10. The relationship between serum FGF-23 concentration and insulin resistance, prediabetes and dyslipidemia in obese children and adolescents
  11. The metabolic consequences of overweight in a cohort of children with type 1 diabetes
  12. The spectrum of pediatric adrenal insufficiency: insights from 34 years of experience
  13. Growth screening in children aged 3–5 years: a useful tool for public health programs in community pediatrics
  14. Selective receptor-mediated impairment of growth factor activity in neonatal- and X-linked adrenoleukodystrophy patients
  15. Determinants for low bone mineral density in pre-school children: a matched case-control study in Wuhan, China
  16. Genetic polymorphisms associated with obesity and non-alcoholic fatty liver disease in Asian Indian adolescents
  17. Maturity onset diabetes of the young (MODY) in Chinese children: genes and clinical phenotypes
  18. Severe, persistent neonatal hypoglycemia as a presenting feature in patients with congenital hypopituitarism: a review of our case series
  19. Case Reports
  20. Short stature in a boy with atypical progeria syndrome due to LMNA c.433G>A [p.(Glu145Lys)]: apparent growth hormone deficiency but poor response to growth hormone therapy
  21. A novel mutation leading to the lethal form of carnitine palmitoyltransferase type-2 deficiency
  22. Diagnosis of cyclic Cushing’s disease manifests as early morning hyperglycemia in a patient with previously well-controlled type 1 diabetes
  23. Short Communication
  24. Replacement of breastfeeding with medical food for the treatment of galactosemia and phenylketonuria: maternal stress
https://doi.org/10.1515/jpem-2018-0439
Schlagwörter für diesen Artikel
copy number variants; developmental disability/intellectual disability; obesity

Artikel in diesem Heft

  1. Frontmatter
  2. Review
  3. Effect of safflower yellow on early type II diabetic nephropathy: a systematic review and meta-analysis of randomized controlled trials
  4. Original Articles
  5. Genomic study via chromosomal microarray analysis in a group of Romanian patients with obesity and developmental disability/intellectual disability
  6. Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey
  7. Assessment of retinal thickness as a marker of brain masculinization in children with congenital adrenal hyperplasia: a pilot study
  8. Auditory event-related potentials demonstrate early cognitive impairment in children with subclinical hypothyroidism
  9. Cardiovascular risk factors in children with type 1 diabetes mellitus
  10. The relationship between serum FGF-23 concentration and insulin resistance, prediabetes and dyslipidemia in obese children and adolescents
  11. The metabolic consequences of overweight in a cohort of children with type 1 diabetes
  12. The spectrum of pediatric adrenal insufficiency: insights from 34 years of experience
  13. Growth screening in children aged 3–5 years: a useful tool for public health programs in community pediatrics
  14. Selective receptor-mediated impairment of growth factor activity in neonatal- and X-linked adrenoleukodystrophy patients
  15. Determinants for low bone mineral density in pre-school children: a matched case-control study in Wuhan, China
  16. Genetic polymorphisms associated with obesity and non-alcoholic fatty liver disease in Asian Indian adolescents
  17. Maturity onset diabetes of the young (MODY) in Chinese children: genes and clinical phenotypes
  18. Severe, persistent neonatal hypoglycemia as a presenting feature in patients with congenital hypopituitarism: a review of our case series
  19. Case Reports
  20. Short stature in a boy with atypical progeria syndrome due to LMNA c.433G>A [p.(Glu145Lys)]: apparent growth hormone deficiency but poor response to growth hormone therapy
  21. A novel mutation leading to the lethal form of carnitine palmitoyltransferase type-2 deficiency
  22. Diagnosis of cyclic Cushing’s disease manifests as early morning hyperglycemia in a patient with previously well-controlled type 1 diabetes
  23. Short Communication
  24. Replacement of breastfeeding with medical food for the treatment of galactosemia and phenylketonuria: maternal stress
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