Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing
| Autor: | Vivekanand Singh, Sarah E Soden, Julie A. Bass, Kathy Christenson, Jignesh Dalal, Darrell L. Dinwiddie, Julia M. Bracken, David L. Zwick, Stephen F. Kingsmore, Carol J. Saunders, Charles C. Roberts, Neil A. Miller |
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| Rok vydání: | 2013 |
| Předmět: |
Exome sequencing
Male Proband medicine.medical_specialty Interleukin-10 Receptor alpha Subunit Biology Compound heterozygosity Polymorphism Single Nucleotide Inflammatory bowel disease Gastroenterology Article 03 medical and health sciences 0302 clinical medicine IL10RA Internal medicine Genetics medicine Humans Exome Genetic Testing Child 030304 developmental biology 0303 health sciences Crohn's disease Hematopoietic Stem Cell Transplantation Genetic Variation Infant Sequence Analysis DNA Colitis Inflammatory Bowel Diseases medicine.disease digestive system diseases 3. Good health Treatment Outcome Molecular Diagnostic Techniques Failure to thrive Immunology Primary immunodeficiency 030211 gastroenterology & hepatology medicine.symptom IL10 |
| Zdroj: | Genomics |
| ISSN: | 0888-7543 |
| DOI: | 10.1016/j.ygeno.2013.08.008 |
| Popis: | Pediatric-onset inflammatory bowel disease (IBD) is known to be associated with severe disease, poor response to therapy, and increased morbidity and mortality. We conducted exome sequencing of two brothers from a non-consanguineous relationship who presented before the age of one with severe infantile-onset IBD, failure to thrive, skin rash, and perirectal abscesses refractory to medical management. We examined the variants discovered in all known IBD-associated and primary immunodeficiency genes in both siblings. The siblings were identified to harbor compound heterozygous mutations in IL10RA (c.784C>T, p.Arg262Cys; c.349C>T, p.Arg117Cys). Upon molecular diagnosis, the proband underwent successful hematopoietic stem cell transplantation and demonstrated marked clinical improvement of all IBD-associated clinical symptoms. Exome sequencing can be an effective tool to aid in the molecular diagnosis of pediatric-onset IBD. We provide additional evidence of the safety and benefit of HSCT for patients with IBD due to mutations in the IL10RA gene. |
| Databáze: | OpenAIRE |
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