DO: 0050432;
Cytogenetic location: 17p13 Genomic coordinates (GRCh38): 17:1-10,800,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 17p13 | {Asperger syndrome susceptibility 2} | 608631 | Isolated cases; Multifactorial | 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).
Anneren et al. (1995) reported a 10-year-old boy with Asperger syndrome. Development was normal until 3 years of age when he became anxious and withdrawn; he later developed depression and school phobic symptoms. Gross motor movements were clumsy, and his speech was stereotyped and monotonous. He lacked social interactions and had no close friends. The boy also had an apparently balanced de novo translocation t(17;19)(p13.3;p11). Tentler et al. (2002) reported follow-up on the patient reported by Anneren et al. (1995). The authors noted that he met criteria for ASPG, but not for childhood autism.
Tentler et al. (2002) reported a second, unrelated male with ASPG who also met criteria for childhood autism. He had an apparently de novo balanced translocation t(13;17)(q14;p13). Although no other family members had the translocation, the patient's mother had a history of anorexia nervosa (606788) and obsessive personality traits, 1 half sister had attention deficit-hyperactivity disorder (ADHD; 143465), and another half sister had autism.
By Southern blot analysis of the chromosome 17p13 breakpoints in 2 patients with Asperger syndrome, Tentler et al. (2002) determined that the breakpoint is positioned within a 0.7-kb region located between the CHRNE (100725) and GP1BA (606672) genes, 0.8 kb from the 5-prime end of the CHRNE gene.
American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. (4th ed.) Washington, D.C.: American Psychiatric Association (pub.) 1994.
Anneren, G., Dahl, N., Uddenfeldt, U., Janols, L.-O. Asperger syndrome in a boy with a balanced de novo translocation: t(17;19)(p13.3;p11). (Letter) Am. J. Med. Genet. 56: 330-331, 1995. [PubMed: 7778603] [Full Text: https://doi.org/10.1002/ajmg.1320560325]
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]
Tentler, D., Johannesson, T., Johansson, M., Rastam, M., Gillberg, C., Orsmark, C., Carlsson, B., Wahlstrom, J., Dahl, N. A candidate region for Asperger syndrome defined by two 17p breakpoints. Europ. J. Hum. Genet. 11: 189-195, 2002.