Autistic and Rett-like features associated with 2q33.3-q34 interstitial deletion
Dae-Hyun Jang1, Hyojin Chae2,3, Myungshin Kim2,3
1Department of Rehabilitation, Incheon St. Mary's Hospital, The Catholic University of Korea, Seoul, Korea.
American Journal of Medical Genetics. Part A
|April 23, 2015
Summary
This study reports a rare de novo 2q33.3-q34 interstitial deletion in a young girl with developmental delay and autistic traits. Researchers identified several candidate genes within the deleted region that may contribute to these neurodevelopmental features.
Area of Science:
- Genetics
- Developmental Biology
- Human Genomics
Background:
- De novo interstitial deletions are rare genetic events.
- Understanding the genetic basis of developmental delay and autistic traits is crucial for early diagnosis and intervention.
Observation:
- A 15-month-old female presented with poor eye contact, developmental delay, microcephaly, and mild dysmorphic features.
- At 30 months, she exhibited persistent developmental delay, autistic traits, and Rett-like features, including bruxism and repetitive hand movements.
Findings:
- Array comparative genomic hybridization revealed a de novo 5.9 Mb heterozygous deletion at 2q33.3-q34.
- The deletion encompassed 34 known genes, with NRP2, ADAM23, KLF7, CREB1, MAP2, UNC80, and LANCL1 identified as potential candidate genes.
Implications:
- This case expands the known spectrum of 2q33.3-q34 deletions.
- Identification of candidate genes provides a basis for further research into the etiology of neurodevelopmental disorders associated with this deletion.
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