Abstract
We describe a patient with multiple congenital anomalies, including hemifacial microsomia, asymmetric macrostomia, dysplastic mandible, multiple preauricular tags, atresia of the external auricular canal, and vertebral anomalies, which coincide with oculo-auriculo-vertebral spectrum. G-banding (∼850 band level) showed a normal 46, XY karyotype. A genome-wide screen for copy number variations (CNVs) using single nucleotide polymorphism (SNP) arrays revealed a 1 Mb and a 167 kb deletion both on chromosome 5q13.2, which were absent in the parents and in 27 controls. Sixteen genes were located in the deleted region, including BIR1C and OCLN, which are involved in apoptosis. Haploinsufficiency of these genes may be contributing to the phenotype in this patient. To our knowledge, there are no previous reports of this 5q13.2 deletion in a patient with oculo-auriculo-vertebral spectrum.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 153-158 |
| Number of pages | 6 |
| Journal | European Journal of Medical Genetics |
| Volume | 53 |
| Issue number | 3 |
| DOIs | |
| State | Published - 2010 |
Funding
We thank the patient and all the subjects for participating in our study and the physicians for referring the patient to us. We also thank Dr. Mary Beth Kirkham, Department of Agronomy and Dr. George H. Liang, Professor Emeritus, Department of Agronomy and Former Chairman, Inter-Departmental Program of Genetics, Kansas State University for polishing the paper. This work was funded by the National Natural Sciences Foundation of China (No. 30671104 ).
Keywords
- 5q13.2
- Copy number variation
- Hemivertebrae
- Multiple craniofacial anomaly
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics