New Mutations: Achalasia, Pseudoobstruction, & IBD

The ability to use whole exome sequencing and widely available genetic testing is yielding a plethora of new information regarding the genetic causes for many conditions.  In gastroenterology, here are a few recent examples:

  • Shteyer E, et al. “Truncating mutation in the nitric oxide synthase 1 gene is associated with infantile achalasia.” Gastroenterology. 2015 Mar;148(3):533-536.e4. doi: 10.1053/j.gastro.2014.11.044. Epub 2014 Dec 3.
  • Bonora E, et al. “Mutations in RAD21 Disrupt Regulation of APOB in Patients with Chronic Intestinal Pseudo-Obstruction” Gastroenterology 2015; 148: 771-82.  Genetic defect in RAD21 identified in Turkish family with consanguinity; in addition, APOB48 serum levels was identified as a potential biomarker for intestinal pseudo-obstruction and intestinal ganglion numbers.
  • Alonso A, et al. “Identification of Loci for Crohn’s Disease Phenotypes Using a Genome-Wide Association Study.” Gastroenterology 2015; 148: 794-805. Variants in MAG11, CLCA2, 2q24.1, LY75 identified as associated with Crohn’s phenotypes.

For me, I am not sure whether these findings should be considered mundane or amazing. On the one hand, each of the findings helps understand these diseases; yet, I came across all of these articles in the span of 24 hours and from the same journal.

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2 thoughts on “New Mutations: Achalasia, Pseudoobstruction, & IBD

  1. Pingback: Achalasia with Megaesophagus | gutsandgrowth

  2. Pingback: Achalasia -Updated Epidemiology | gutsandgrowth

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