Gastrointestinal Dysmotility Is a Significant Feature in 2 Siblings With a Novel Inositol 1,4,5-Triphosphate Receptor 1 (ITPR1) Missense Variant
| Autor: | Nishitha R. Pillai, Deborah Schady, Eric H. Chiou, Naomi E. Butler Tjaden, Bruno P. Chumpitazi |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
medicine.medical_specialty
business.industry Case Report General Medicine Smooth muscle contraction Neurogastroenterology medicine.disease Pediatrics Interstitial cell of Cajal chemistry.chemical_compound symbols.namesake Endocrinology chemistry Internal medicine medicine symbols Missense mutation Inositol Gastroparesis business Receptor Gastrointestinal dysmotility |
| Zdroj: | ACG Case Reports Journal |
| ISSN: | 2326-3253 |
| DOI: | 10.14309/crj.0000000000000676 |
| Popis: | We present 2 siblings with a novel type 1 inositol 1,4,5-triphosphate receptor (ITPR1) missense variant who exhibit gastrointestinal dysmotility (chronic constipation and gastroparesis). ITPR1 is expressed in the cerebellum and interstitial cells of Cajal. Periodic release of calcium by ITPR1 initiates pacemaker currents, resulting in smooth muscle contraction. ITPR1 mutations are known to be associated with neurologic syndromes, and these variants have not previously been associated with significant gastrointestinal manifestations in humans. Using whole-genome sequencing, in silico prediction software, biopsy samples, and manometry, the identified novel ITPR1 variant is likely pathogenic and may have neurogastroenterology implications. |
| Databáze: | OpenAIRE |
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