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Comment
. 2015 May 1;77(9):769-71.
doi: 10.1016/j.biopsych.2015.02.032. Epub 2015 Mar 2.

Genotype-first analysis of the 16p11.2 deletion defines a new type of "autism"

Michael H Duyzend  1 , Evan E Eichler  2
Affiliations
Comment

Genotype-first analysis of the 16p11.2 deletion defines a new type of "autism"

Michael H Duyzend et al. Biol Psychiatry. .
No abstract available

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Conflict of interest statement

FINANCIAL DISCLOSURE AND POTENTIAL CONFLICTS OF INTEREST:

E.E.E. is on the scientific advisory board (SAB) of DNAnexus, Inc. and is a consultant for Kunming University of Science and Technology (KUST) as part of the 1000 China Talent Program. M.H.D. reports no biomedical financial interests or potential conflicts of interest.

Figures

Figure 1
Figure 1. Phenotypic heterogeneity of 16p11.2 deletion cases
A) Overlap of three disorders in the 35 patients of 3 years or older with phenotype information from both parents and a de novo deletion (only). Four patients did not have one of these three diagnoses. No single DSM-IV-TR designation predominates although more than 50% carry two or more diagnoses. B) The full-scale IQ (FSIQ) difference measures the change in FSIQ between parents and child carrying a de novo 16p11.2 deletion. We define the FSIQ difference as the average of the FSIQ of the parents subtracted from the FSIQ of the child. De novo deletion carriers show, on average, a 27-point decrement of FSIQ. The range is, however, considerable with some patients being more significantly impaired (e.g., 5 have a >40-point decrement) while others show almost no change (3 have a decrement or increment within 5 points of zero).
See this image and copyright information in PMC

Comment on

  • The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population.
    Hanson E, Bernier R, Porche K, Jackson FI, Goin-Kochel RP, Snyder LG, Snow AV, Wallace AS, Campe KL, Zhang Y, Chen Q, D'Angelo D, Moreno-De-Luca A, Orr PT, Boomer KB, Evans DW, Kanne S, Berry L, Miller FK, Olson J, Sherr E, Martin CL, Ledbetter DH, Spiro JE, Chung WK; Simons Variation in Individuals Project Consortium. Hanson E, et al. Biol Psychiatry. 2015 May 1;77(9):785-93. doi: 10.1016/j.biopsych.2014.04.021. Epub 2014 Jun 16. Biol Psychiatry. 2015. PMID: 25064419 Free PMC article.

References

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