ABSTRACT FORM (Deadline for submission: June 30th, 2016) Please type in capital letters: Abstract Title: SCREENING FOR MC4R MUTATIONS IN CYPRIOT CHILDREN WITH SEVERE EARLY ONSET OBESITY AND TALL STATURE IDENTIFEID A NOVEL MC4R DELETION
Presenting Author:
__
MEROPI ___ (Name)
TOUMBA (Surname)
Author’s Title: MD Institution-Hospital: IASIS HOSPITAL Department: PEDIATRIC ENDOCRINOLOGY Address : 8 VORIOU IPIROU
Zip Code: 8036
Telephone: + 357 26848484
Fax : + 357 26848300
(please include country and city codes) Preferred Type of Presentation (choose only one): Oral
x Poster
Choice of Scientific Committee
City: PAPHOS, CYPRUS E-mail :
[email protected]
Abstracts must be submitted in English with a maximum word count of 250 words. Authors from non-English speaking countries are requested to have their text thoroughly checked. Abstracts should be send by email to
[email protected] Figures, graphics and footnotes will not be accepted. The ECOG 2016 abstract template is available below and through the following link: www.globalevents.gr The submission fee is 35 EUR per abstract - this should be paid at the time of abstract submission by bank transfer: ALPHA BANK Account No.: 480 002 002 002694 IBAN No: GR 2501404800480002002002694 SWIFT CODE: CRBAGRAAXXX To the order of : GLOBAL EVENTS Abstracts will be selected for oral sessions or poster presentations. All abstract submitters will be notified of the status of their abstract by July 31st, 2016. Presenters of accepted abstracts are expected to attend the congress and will be entitled to an early bird registration fee once they are notified of their abstract acceptance. All accepted abstracts will be published in Acta Paediatrica
ABSTRACT TEMPLATE ABSTRACT
Screening for MC4R mutations in Cypriot children with severe early onset obesity and tall stature identified a novel MC4R deletion. V Neocleous1, C Shammas1, MM Phelan2, P Fanis1, M Pantelidou3, C Stylianou4, N Skordis5,1, C Mantzoros6, LA Phylactou1, M Toumba7,1. 1
Department of Molecular Genetics, Function & Therapy, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus; 2Department of Biochemistry NMR Centre for Structural Biology, University of Liverpool, Institute of Integrative Biology, Crown Street, Liverpool L69 7ZB; 3Department of Pharmacy and Department of Nursing, School of Health Sciences, Frederick University, Nicosia, Cyprus; 4Department of Pediatrics, Paphos General Hospital, 5Division of Pediatric Endocrinology, Paedi Center for specialized Pediatrics, Nicosia, Cyprus; 6Division of Endocrinology, Beth Israel Deaconess Medical Center Boston, MA 02215, USA; 7Pediatric Endocrinology Clinic, IASIS Hospital, Paphos, Cyprus.
Contact author: Meropi Toumba, MD. Email:
[email protected]
Key words: Hyperphagia, melanocortin receptor, novel deletion, obesity, overgrowth
Aim: Melanocortin-4-receptor (MC4R) mutations represent the most frequent cause of monogenic obesity. Children carrying such mutations show an overgrowth phenotype with early onset of hyperphagia, extreme obesity and height acceleration. To verify the association of MC4R mutations with this particular phenotype, MC4R gene was screened in a group of severely obese children selected on the basis of their phenotype. Methods: Patients (n=14) included in the study should meet the following criteria: Obesity onset before the age of 8 years, body mass index (BMI) z-score ≥+3SDS, height z-score ≥+2SDS and growth velocity (GV) z-score ≥ +2SDS for age and gender. Direct sequencing of the MC4R gene was performed for all the patients enrolled in the study. Results: A novel heterozygous MC4R p.M215del (c.643_645delATG) deletion was identified in 2 siblings. The younger patient, aged 3 years, was extremely obese with BMI 30 kg/m2 (z-score: +4.5SDS) and extreme linear growth acceleration with GV 12cm/y (z-score: +2.5SDS). 3D structural dynamic simulation studies have been used to investigate the conformational changes induced by this novel amino acid deletion. Conclusion: These preliminary data identified a novel p.M215del deletion as a disease causing mutation and confirmed the association between MC4R mutations and overgrowth phenotype even in heterozygote patients.
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