Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7

Table 1 Clinical phenotypes of individuals in the pedigree under study

	Unaffected mother (UM)	Affected proband (AP)	Affected brother
Age at first assessment	N/A	8 years old	N/A
Sex	Female	Male	Male
Social Responsiveness Scale-2 by mother	N/A	72	N/A
Child Behavioral Checklist (CBCL) total by mother	N/A	72	N/A
Attention deficit (AD) by CBCL	N/A	92	N/A
Screen for Child Anxiety-Related Disorders (SCARED)-P score by mother	N/A	46	N/A
Pervasive Developmental Disorder (PDD)	No	Yes	Yes
Depression and anxiety disorder (by Teacher Report Form-TRF)	No (some traits self-reported)	Yes Score-71	Yes
Seizure history	No	No	No
Developmental delay	No	Yes-Language development	Yes
Eye contact	Normal	No eye contact at the age of five, intermittent at the age of 12	Normal
Nonverbal communication problems	No	Yes	Yes
Speech/Language Delay	No	Yes	Yes
ADHD	No (some traits self-reported)	Yes	Yes
ASD	No	Yes (level 1)	Yes (traits)
Mood disorder	No	Yes	Yes
Genetic variant	424 kb gain at 15q13.3	424 kb gain at 15q13.3	444 kb gain at 15q13.3
hg19 coordinates of variant	[32,020,432-32,444,044]	[32,019,918-32,444,044]	[31,999,631-32,444,044]

Clinical phenotypes and location of copy number variation in a family with 15q13.3 duplication, including the unaffected mother (UM), affected proband (AP), and his affected brother. Note that the minor differences in reported lengths of the duplications between subjects reflect the limits of resolution of detection by chromosomal microarray analysis

ISSN: 1741-7007