ECE2016 Eposter Presentations Obesity (69 abstracts)
16p11.2 Microdeletion and Prader Willi syndrome: similarities and differences
Laia Casamitjana 1 , Assumpta Caixàs 1 , Irene-Noelia Berges 1 , Lara Albert 1 , Albert Cano 1 , Ismael Capel 1 , Olga Giménez-Palop 1 , Elisabet Gabau 2 , Raquel Corripio 3 & Mercedes Rigla 1
1Endocrinology and Nutrition Department, Hospital de Sabadell, Corporació Sanitària Parc Taulí, Institut de Recerca I3PT(UAB), Sabadell (Barcelona), Spain; 2Pediatric Clinical Genetics Department, Hospital de Sabadell, Corporació Sanitària Parc Taulí, Institut de Recerca I3PT(UAB), Sabadell (Barcelona), Spain; 3Pediatrics Department.Hospital de Sabadell, Corporació Sanitària Parc Taulí, Institut de Recerca I3PT(UAB), Sabadell (Barcelona), Spain.
Introduction: Prader Willi syndrome (PWS) is the most common syndromic form of obesity, caused by the absence of expression of the paternally active gens on the long arm of chromosome 15.The 16p11.2 microdeletion has recently been recognized as a syndromic condition appearing to be a predisposing factor for overweight, being the second most common genetic cause of obesity. One possible causative gen- SH2B1- involving leptin and insulin signaling, has been identified, although other genes may play a role.
Case report: We describe a case series of seven patients diagnosed with 16p11.2 deletion in our hospital between 2013–2015 and compare their main features with PWS. Four of them were men with an average age at diagnosis of 9.9±6.1 years. Two of them were referred to our clinical genetics department with a suspected diagnosis of PWS. Five of them had a sex-specific BMI for age over 95th percent. The mean length of deletion was 530.7Kb [448–598].Two of them suffered seizures and one patient had sleep apnoea.In the same way as PWS individuals, patients with 16p11.2 deletion present with hypotonia at birth. They may exhibit developmental delay, intellectual disability, and/or autism spectrum disorder. Weight is variable in childhood, but hyperphagia and obesity usually starts from one year on in PWS and later in 16p11.2 deletion. On the other hand, individuals with 16p11.2 syndrome don’t have short stature nor other hormonal deficiencies as PWS individuals do (thyroid or reproductive axis). They can suffer from minor cardiac malformations but not from scoliosis.
Conclusions: Since the implementation of array analysis, numerous microdeletion syndromes as 16p11.2 have been described. Further research is needed for a comprehensive characterization of a genotype-phenotype correlation. It should be considered as one of the genetic causes of obesity following PWS. It’s important to identify clinical characteristics, leading to perform genetic testing and counseling.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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