DO: 0050432;
Cytogenetic location: 1q21-q22 Genomic coordinates (GRCh38): 1:143,200,001-156,600,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 1q21-q22 | {Asperger syndrome susceptibility 3} | 608781 | 2 |
Asperger syndrome is considered to be a form of childhood autism (see, e.g., 209850). The DSM-IV (American Psychiatric Association, 1994) specifies several diagnostic criteria for Asperger syndrome, which has many of the same features as autism. In general, patients with Asperger syndrome and autism exhibit qualitative impairment in social interaction, as manifest by impairment in the use of nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures, failure to develop appropriate peer relationships, and lack of social sharing or reciprocity. Patients also exhibit restricted, repetitive and stereotyped patterns of behavior, interests, and activities, including abnormal preoccupation with certain activities and inflexible adherence to routines or rituals. Asperger syndrome is primarily distinguished from autism by the higher cognitive abilities and a more normal and timely development of language and communicative phrases. Gillberg et al. (2001) described the development of the Asperger syndrome (and high-functioning autism) Diagnostic Interview (ASDI), which they claimed has a strong validity in the diagnosis of the disorder.
For a discussion of genetic heterogeneity of Asperger syndrome, see ASPG1 (608638).
Ylisaukko-oja et al. (2004) performed a genomewide scan on 17 Finnish families ascertained for Asperger syndrome with a strictly defined phenotype. Evidence for linkage was highest on chromosome 1q21-q22 (ASPG3; maximum 2-point lod score of 3.58 at theta = 0.08 for marker D1S484), followed by chromosome 3p24-p14 (maximum 2-point lod score of 2.50 at theta = 0.00 for marker D3S2432) and chromosome 13q31-q33 (maximum 2-point lod score of 1.59 at theta = 0.18 for marker D13S793).
American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. (4th ed.) Washington, D.C.: American Psychiatric Association (pub.) 1994.
Gillberg, C., Gillberg, C., Rastam, M., Wentz, E. The Asperger syndrome (and high-functioning autism) Diagnostic Interview (ASDI): a preliminary study of a new structured clinical interview. Autism 5: 57-66, 2001. [PubMed: 11708390] [Full Text: https://doi.org/10.1177/1362361301005001006]
Ylisaukko-oja, T., Nieminen-von Wendt, T., Kempas, E., Sarenius, S., Varilo, T., von Wendt, L., Peltonen, L., Jarvela, I. Genome-wide scan for loci of Asperger syndrome. Molec. Psychiat. 9: 161-168, 2004. [PubMed: 14966474] [Full Text: https://doi.org/10.1038/sj.mp.4001385]