Mahdieh Ghaempanah - Pediatric Pulmonary and Sleep Medicine Department, Children’s Medical Center, Tehran University of Medical Science, Tehran, Iran
Sedigheh Yousefzadegan - Pediatric Pulmonary and Sleep Medicine Department, Children’s Medical Center, Tehran University of Medical Science, Tehran, Iran
Mohammadreza Modaresi - Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran

Background: In human bodies, cilia play a vital role in development and everyday life and ciliopathy is a group of genetic disorders of cellular cilia that affects the structure or function of cilia and leading to various and multiple systemic problems such as chronic respiratory infections, renal, cardiac, brain, skeletal, and eye or ear related disorders. One of these disorders is Stromme Syndrome, an autosomal recessive syndrome that could be diagnosed by genetic test.Case Presentation: We introduce a family who referred for genetic counselling about their current pregnancy. This couple had history of two daughters died during neonatal period with respiratory distress from 10th day of life that leads to respiratory failure. They have also one healthy daughter. The genetic test -Whole Exome Sequencing- was done for both parents and showed mutation in CENPF gene on chromosome 1 that leads to a rare ciliopathy called Stromme Syndrome that could explain various respiratory and organic dysfunctions in their two died offsprings.Conclusion: Whole Exome Sequencing technique can rapidly and accurately detect genetic disorders such as ciliopathies. The prognosis of Stromme syndrome is highly variable; some affected individuals do not live beyond early infancy and some others may develop almost normally.

Ciliopathy, Stromme Syndrome, Whole Exome Sequencing