Author/Authors :
Dara, Naghi Pediatric Gastroenterology, Hepatology and Nutrition Research Center- Research Institute for Children's Health- Shahid Beheshti University of Medical Sciences, Tehran , Nemati, Sharam Department of Medical Genetics- Tehran University of Medical Sciences, Tehran , Teimourian, Sharam Department of Medical Genetics- Iran University of Medical Sciences, Tehran , Imanzadeh, Farid Pediatric Gastroenterology, Hepatology and Nutrition Research Center- Research Institute for Children's Health- Shahid Beheshti University of Medical Sciences, Tehran , Hosseini, Amir hossein Pediatric Gastroenterology, Hepatology and Nutrition Research Center- Research Institute for Children's Health- Shahid Beheshti University of Medical Sciences, Tehran , Tajalli, Saleheh Student Research Committee- Iran University of Medical Sciences, Tehran , Sayyari, Ali Akbar Pediatric Gastroenterology, Hepatology and Nutrition Research Center- Research Institute for Children's Health- Shahid Beheshti University of Medical Sciences, Tehran , Najafi, Ali Molecular Biology Research Center- Systems Biology and Poisonings Institute- Baqiyatallah University of Medical Sciences, Tehran , Rohani, Pejman Pediatric Gastroenterology, Hepatology and Nutrition Research Center- Research Institute for Children's Health- Shahid Beheshti University of Medical Sciences, Tehran , Khatami, Katayoun Pediatric Gastroenterology, Hepatology and Nutrition Research Center- Research Institute for Children's Health- Shahid Beheshti University of Medical Sciences, Tehran , Motevaseli, Elahe Department of Molecular Medicine- School of Advanced Technologies in Medicine- Tehran University of Medical Sciences, Tehran , de Boer, Martin Sanquin Blood Supply Organization, and Landsteiner Laboratory- Academic Medical Centre-University of Amsterdam, Amsterdam, The Netherlands , Kuijpers, Taco W. Sanquin Blood Supply Organization, and Landsteiner Laboratory- Academic Medical Centre-University of Amsterdam, Amsterdam, The Netherlands
Abstract :
Inflammatory bowel disease (IBD) with very early onset manifestations (younger than six years of age) is an
essential pediatric gastrointestinal disease that encompasses a group of diverse and rare genetic defects. It may be
associated with chronicity, premalignant nature, and high morbidity and mortality during childhood. Because of
overlapping phenotypes, the definitive diagnosis based on conventional strategies is frequently a challenge.
However, many patients with different molecular pathologies are treated with the same therapeutic strategy. In this
context, it is essential to define a more reliable method to provide an opportunity for a rapid and accurate diagnosis.
Here we report a novel homozygous exonic variant in a patient with an IBD-like lesion in the colon during the
infancy period. A 7 months old boy who was born of a consanguineous marriage developed gastrointestinal
disorders early in life. After complete diagnostic workups, this case underwent conventional therapy of IBD for five
months; but clinical remission was not achieved. We identified a novel homozygous mutation (c.684C>T p(=)) in
exon 7 of IL-12RB1 gene that in silico studies indicated its significance in the splicing process. At the 14th month of
age, this case died. Our finding reveals the importance of genetic screening as an early diagnostic tool in the
identification of the underlying causes of IBD with very early onset manifestations, particularly infantile (< 2 years
of age) IBD. This strategy makes an opportunity in prompt diagnosis and targeted therapy.
Corresponding author: Department of Medical Genetics, Iran University of Medical Sciences, Tehran, Iran.
E-mail: teimourian.sh@iums.ac.ir
Submmited 23 September 2018; Accepted 22 February 2019; Published 28 February 2019
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