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Mol Autism. 2017 Oct 27;8:58. doi: 10.1186/s13229-017-0171-7. eCollection 2017.

Critical region within 22q11.2 linked to higher rate of autism spectrum disorder.

Author information

Center for Autism Research, The Children's Hospital of Philadelphia, 2716 South Street, Philadelphia, PA 19104 USA.
Department of Psychology, University of Pennsylvania, 3720 Walnut Street, Philadelphia, PA 19104 USA.
Department of Pediatrics, Seattle Children's Hospital, 4800 Sand Point Way NE, Seattle, WA 98105 USA.
Vanderbilt Brain Institute, Vanderbilt University School of Medicine, 465 21st Avenue South, Nashville, TN 37232 USA.
Department of Psychiatry, University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA 19104 USA.
Department of Behavioral and Social Science, University of the Sciences, 600 South 43rd Street, Philadelphia, PA 19104 USA.
Department of Pediatrics, The Children's Hospital of Philadelphia, 3400 Civic Center Boulevard, Philadelphia, PA 19104 USA.
Department of Pediatrics, University of Utah, Salt Lake City, UT 84108 USA.
Contributed equally



Previous studies have reported no clear critical region for medical comorbidities in children with deletions or duplications of 22q11.2. The purpose of this study was to evaluate whether individuals with small nested deletions or duplications of the LCR-A to B region of 22q11.2 show an elevated rate of autism spectrum disorder (ASD) compared to individuals with deletions or duplications that do not include this region.


We recruited 46 patients with nested deletions (n = 33) or duplications (n = 13) of 22q11.2, including LCR-A to B (ndel = 11), LCR-A to C (ndel = 4), LCR-B to D (ndel = 14; ndup = 8), LCR-C to D (ndel = 4; ndup = 2), and smaller nested regions (n = 3). Parent questionnaire, record review, and, for a subset, in-person evaluation were used for ASD diagnostic classification. Rates of ASD in individuals with involvement of LCR-B to LCR-D were compared with Fisher's exact test to LCR-A to LCR-B for deletions, and to a previously published sample of LCR-A to LCR-D for duplications. The rates of medical comorbidities and psychiatric diagnoses were determined from questionnaires and chart review. We also report group mean differences on psychiatric questionnaires.


Individuals with deletions involving LCR-A to B showed a 39-44% rate of ASD compared to 0% in individuals whose deletions did not involve LCR-A to B. We observed similar rates of medical comorbidities in individuals with involvement of LCR-A to B and LCR-B to D for both duplications and deletions, consistent with prior studies.


Children with nested deletions of 22q11.2 may be at greater risk for autism spectrum disorder if the region includes LCR-A to LCR-B. Replication is needed.


22q11.2 deletion syndrome; 22q11.2 duplication syndrome; Atypical; Autism spectrum disorder; Face processing; Nested; Prosopagnosia; RANBP1; Screening; Syndromic autism

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