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15q11.2 microdeletion, developmental delay and congenital heart disease

"Our results support the hypothesis that 15q11.2 (BP1-BP2) microdeletion is associated with developmental delay, abnormal behaviour, generalized epilepsy and congenital heart disease."

So it was written in the paper from Vanlerberghe and colleagues [1] following their analysis of 52 "unrelated patients" diagnosed with 15q11.2 microdeletion, a 'novel' microdeletion syndrome according to other research [2].

Your REAL problem's the monkey.

Autism spectrum disorder (ASD) is mentioned in the Vanlerberghe paper as per the suggestion that "63.4% had psychological issues such as Attention Deficit and Hyperactivity Disorder, Autistic Spectrum Disorder or Obsessive-Compulsive Disorder" and hence why this paper is fodder for this blog. Quite ESSENCE-like if you want my honest opinion.

Actually, I do have a few other reasons for briefly discussing this paper, bearing in mind my considerable lack of knowledge and experience when it comes to all-things genetics. So, quite recently I talked about 15q Duplication Syndrome (Dup15q) (see here) and how the gut and gastrointestinal (GI) symptoms have been a focus not so long ago. I know that Dup15q and 15q11.2 microdeletion are not the same thing - one is about gains and the other about losses of genetic material (I think!) - but they are talking about the same chromosome, and that chromosome has been linked to quite a few conditions (see here). I wondered whether anyone had investigated GI issues in cases of 15q11.2 microdeletion? Answer: sort of [3] with perhaps lots more research to do.


The other reason I was drawn to the Vanlerberghe paper was the suggestion of "associated congenital heart disease in 17.3%" of their participant group. Congenital heart disease (CHD) covers quite a bit of diagnostic ground and again, I don't profess to be an expert in this area. That being said, I'll draw your attention to a post written not-so-long-ago discussing the paper from Hilda Razzaghi and colleagues [4] (see here) which concluded that: "Children aged 2-17 with CHD were more likely than those without CHD to have had a diagnosis of autism spectrum disorder (crude OR, 4.6; 95% CI, 1.9-11.0) or intellectual disability (crude OR, 9.1; 95% CI, 5.4-15.4)." It strikes me that 15q11.2 microdeletion might have something further to contribute when it comes to any future research talking about CHD and autism (or autism+). I'm not saying that the microdeletion will universally fill in the blanks but it might play a possible role.

And now for some opera... from Carmen - Habanera.
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[1] Vanlerberghe C. et al. 15q11.2 Microdeletion (BP1-BP2) and Developmental delay, Behaviour issues, Epilepsy and Congenital heart disease: a series of 52 patients. Eur J Med Genet. 2015 Jan 14. pii: S1769-7212(15)00006-3.

[2] Doornbos M. et al. Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances. European Journal of Medical Genetics. 2009; 52: 108-115.

[3] Wong D. et al. Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts. Case Reports in Genetics. 2013. 801094.

[4] Razzaghi H. et al. Long-term outcomes in children with congenital heart disease: national health interview survey. J Pediatr. 2015 Jan;166(1):119-124.e1.
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Vanlerberghe C, Petit F, Malan V, Vincent-Delorme C, Bouquillon S, Boute O, Holder-Espinasse M, Delobel B, Duban B, Vallee L, Cuisset JM, Lemaitre MP, Vantyghem MC, Pigeyre M, Lanco-Dosen S, Plessis G, Gerard M, Decamp M, Mathieu M, Morin G, Jedraszak G, Bilan F, Gilbert-Dussardier B, Fauvert D, Roume J, Cormier-Daire V, Caumes R, Puechberty J, Genevieve D, Sarda P, Pinson L, Blanchet P, Lemeur N, Sheth F, Manouvrier-Hanu S, & Andrieux J (2015). 15q11.2 Microdeletion (BP1-BP2) and Developmental delay, Behaviour issues, Epilepsy and Congenital heart disease: a series of 52 patients. European journal of medical genetics PMID: 25596525

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