Diagnosis of a rare ciliopathy by genetic test -Whole Exome Sequencing- in a nonconsanguineous marriage family: case report

Publish Year: 1398
نوع سند: مقاله کنفرانسی
زبان: English
View: 352

نسخه کامل این Paper ارائه نشده است و در دسترس نمی باشد

  • Certificate
  • من نویسنده این مقاله هستم

استخراج به نرم افزارهای پژوهشی:

لینک ثابت به این Paper:

شناسه ملی سند علمی:

BSIPD01_056

تاریخ نمایه سازی: 5 بهمن 1398

Abstract:

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.

Authors

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