A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss.

@article{Gariballa2017ANA,
  title={A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss.},
  author={Nesrin Gariballa and Afif Ben-Mahmoud and Makanko Komara and Aisha M. Al-Shamsi and Anne Rachel John and Bassam R Ali and Lihadh Al-Gazali},
  journal={American journal of medical genetics. Part A},
  year={2017},
  volume={173 5},
  pages={
          1257-1263
        }
}
Steel syndrome is an autosomal recessive disease characterized by skeletal abnormalities and dysmorphic features. The first mutation associated with this syndrome was reported in Puerto Rican children. In this study, we identified a novel homozygous splice site variant in COL27A1 (c.3556-2A>G) in a consanguineous Emirati family with a child affected by Steel syndrome. In addition, the affected child had severe non-progressive sensorineural hearing loss not reported previously. The variant… CONTINUE READING

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SHOWING 1-10 OF 22 REFERENCES

Collagen structure and stability.

  • Annual review of biochemistry
  • 2009
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