Butler Tjaden Naomi E, Chiou Eric H, Pillai Nishitha R, Schady Deborah A, Chumpitazi Bruno P
Pediatrician-Scientist Training and Development Program, Baylor College of Medicine, Houston, TX.
Department of Pediatrics, Baylor College of Medicine, Houston, TX.
ACG Case Rep J. 2021 Oct 26;8(10):e00676. doi: 10.14309/crj.0000000000000676. eCollection 2021 Oct.
We present 2 siblings with a novel type 1 inositol 1,4,5-triphosphate receptor () missense variant who exhibit gastrointestinal dysmotility (chronic constipation and gastroparesis). is expressed in the cerebellum and interstitial cells of Cajal. Periodic release of calcium by initiates pacemaker currents, resulting in smooth muscle contraction. 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, prediction software, biopsy samples, and manometry, the identified novel variant is likely pathogenic and may have neurogastroenterology implications.
我们报告了2名携带新型1型肌醇1,4,5 -三磷酸受体（）错义变异的兄弟姐妹，他们表现出胃肠动力障碍（慢性便秘和胃轻瘫）。在小脑和 Cajal间质细胞中表达。通过引发起搏器电流周期性释放钙，从而导致平滑肌收缩。已知突变与神经综合征相关，而这些变异此前尚未在人类中与明显的胃肠道表现相关联。通过全基因组测序、预测软件、活检样本和测压法，鉴定出的新型变异可能具有致病性，并且可能对神经胃肠病学有影响。
