Dataset Information

Case of 7p22.1 Microduplication Detected by Whole Genome Microarray (REVEAL) in Workup of Child Diagnosed with Autism.

ABSTRACT: Introduction. More than 60 cases of 7p22 duplications and deletions have been reported with over 16 of them occurring without concomitant chromosomal abnormalities. Patient and Methods. We report a 29-month-old male diagnosed with autism. Whole genome chromosome SNP microarray (REVEAL) demonstrated a 1.3?Mb interstitial duplication of 7p22.1 ->p22.1 arr 7p22.1 (5,436,367-6,762,394), the second smallest interstitial 7p duplication reported to date. This interval included 14 OMIM annotated genes (FBXL18, ACTB, FSCN1, RNF216, OCM, EIF2AK1, AIMP2, PMS2, CYTH3, RAC1, DAGLB, KDELR2, GRID2IP, and ZNF12). Results. Our patient presented features similar to previously reported cases with 7p22 duplication, including brachycephaly, prominent ears, cryptorchidism, speech delay, poor eye contact, and outburst of aggressive behavior with autism-like features. Among the genes located in the duplicated segment, ACTB gene has been proposed as a candidate gene for the alteration of craniofacial development. Overexpression of RNF216L has been linked to autism. FSCN1 may play a role in neurodevelopmental disease. Conclusion. Characterization of a possible 7p22.1 Duplication Syndrome has yet to be made. Recognition of the clinical spectrum in patients with a smaller duplication of 7p should prove valuable for determining the minimal critical region, helping delineate a better prediction of outcome and genetic counseling.

SUBMITTER: Goitia V

PROVIDER: S-EPMC4393924 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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Case of 7p22.1 Microduplication Detected by Whole Genome Microarray (REVEAL) in Workup of Child Diagnosed with Autism.

Goitia Veronica V Oquendo Marcial M Stratton Robert R

Case reports in genetics 20150329

Introduction. More than 60 cases of 7p22 duplications and deletions have been reported with over 16 of them occurring without concomitant chromosomal abnormalities. Patient and Methods. We report a 29-month-old male diagnosed with autism. Whole genome chromosome SNP microarray (REVEAL) demonstrated a 1.3 Mb interstitial duplication of 7p22.1 ->p22.1 arr 7p22.1 (5,436,367-6,762,394), the second smallest interstitial 7p duplication reported to date. This interval included 14 OMIM annotated genes ( ...[more]

PMID: 25893121

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Project description:BackgroundA population segment of autistic adults are under-identified due, in part, to historic changes in criteria for diagnosing autism and diagnostic biases related to gender, socioeconomic status, and other individual characteristics such as intellectual functioning. Some of these individuals, described as the "lost generation", may choose to self-diagnose. Although little is known about this population, it is possible that they share similar self-conceptualizations or internalized stigma as their diagnosed counterparts. This study reports on the structural validity of the Autism Spectrum Identity Scale (ASIS) with individuals diagnosed and self-diagnosed with autism and compares the demographic characteristics, stigma, self-concept, and quality of life of these two groups.MethodsOver 1000 adults diagnosed (n = 893) or self-diagnosed (n = 245) with autism were recruited through organizations serving the autism community to participate in a nationally distributed online survey that included demographic questions and measures for stigma, self-concept, quality of life, and wellbeing. The diagnosed dataset was randomly split with exploratory factor analysis performed on a training dataset. Split-half cross-validation was used to predict the factor structure of the holdout dataset. Then, the full diagnosed dataset structure was used to determine the generalizability of the factor structure to the self-diagnosed dataset. The diagnosed and self-diagnosed were also compared for differences in gender, age, employment status, diagnostic term preference, and factors of self-concept (autism identity and self-esteem), stigma, and quality of life.ResultsFactor analysis of diagnosed participants yielded a four-factor structure, consistent with previous research, with strong split-sample cross-validation and good internal consistency. Factor predictions of the self-diagnosed dataset from the diagnosed dataset ranged from .97 - 1.00 with similar internal consistency. Self-diagnosed participants were more likely to be older, women, or employed and less likely to be students or prefer the term "autism" than those with an autism diagnosis. The groups were remarkably similar in reported stigma, self-esteem, quality of life and in ASIS factors; both groups reported lower quality of life than the general population.ConclusionsThe ASIS demonstrated the same internal structure with both the diagnosed and self-diagnosed. The profile of self-diagnosed participants matches the profile hypothesized for the "lost generation" and others at risk of being under-identified for autism. Both populations appear to be similarly struggling with employment, stigma, and quality of life. Future research should examine whether self-diagnosed individuals meet criteria for autism or could benefit from interventions, programs, or services serving autism communities.

Dataset Information

Case of 7p22.1 Microduplication Detected by Whole Genome Microarray (REVEAL) in Workup of Child Diagnosed with Autism.

Publications

Case of 7p22.1 Microduplication Detected by Whole Genome Microarray (REVEAL) in Workup of Child Diagnosed with Autism.

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