Deletions of 9q21.3 Including NTRK2 Are Associated With Severe Phenotype

Abstrakt

We have read with interest the report "Novel Interstitial 2.6 Mb Deletion on 9q21 Associated With Multiple Congenital Anomalies" by Pua et al. [2014], describing a patient with craniofacial abnormalities, heart defect, bicornuate uterus, extremity deformities, hip dislocation, delayed myelination, and recurrent pneumonia, who died after respiratory decompensation at 14 months of age. The region deleted in the patient showed limited copy number variation (CNV) in both normal and affected individuals, and the article prompted reporting of additional variants of this region to better understand their pathogenicity and the role of individual genes.

Klíčová slova

• structural variation
• developmental delay
• human-genome
• duplications
• disorders
• recurrent
• mutation