Novel 12 Mb interstitial deletion of chromosome 8p11.22-p21.2: a case report
Jincheng Dai1, Jun Zeng2, Hongxi Tan2
1Department of Paediatrics, University of Chinese Academy of Sciences-Shenzhen Hospital, Jinan University, Guangzhou, China.
Insights
A rare chromosome 8 deletion caused Kallmann syndrome in an infant. This deletion involved FGFR1 but not ANK1, explaining the observed symptoms and lack of spherocytosis.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Chromosome 8 short arm deletions are rare causes of genetic disorders.
- Deletion of FGFR1 and ANK1 genes are associated with Kallmann syndrome and spherocytosis, respectively.
Observation:
- A 4-month-old infant presented with growth and psychomotor retardation, microcephaly, and other congenital anomalies.
- A 12.00 MB deletion in the 8p11.22-p21.2 region of chromosome 8 was identified.
- The deletion encompassed 65 protein genes, including FGFR1, but not ANK1.
Findings:
- The patient's phenotype, including Kallmann syndrome, correlated with the deletion of FGFR1.
- The absence of ANK1 gene deletion explained the lack of spherocytosis in this case.
- This case highlights novel clinical features associated with chromosome 8 deletions.
Implications:
- This case expands the understanding of genotype-phenotype correlations in chromosome 8 deletions.
- It underscores the importance of precise genetic analysis in diagnosing complex developmental disorders.
- Further research may elucidate the role of other deleted genes in the observed phenotype.
Background:
The deletion of a short arm fragment on chromosome 8 is a rare cause of Kallmann syndrome and spherocytosis due to deletion of the FGFR1 and ANK1 genes.
Case Presentation:
This case study describes a 4-month-old child with growth and psychomotor retardation, auricle deformity, microcephaly, polydactyly, a heart abnormality, and feeding difficulties. An approximately 12.00 MB deletion was detected in the 8p11.22-p21.2 region of chromosome 8. After sequencing, we found that 65 protein genes had been deleted, including FGFR1, which resulted in Kallmann syndrome. There was no deletion of the ANK1 gene associated with spherocytosis, consistent with the phenotype.
Conclusion:
This patient is a new case of short arm deletion of chromosome 8, resulting in novel and previously unreported clinical features.
