Should laboratories be performing fast functional analysis for novel mutations in CCD?[scroll for answer]
Yes. A recent study reports twelve novel mutations in the SLC26A3 gene in 17 separate cases of congenital chloride diarrhea (CCD). These cases improved the knowledge of pathogenic mutations in CCD and reaffirm the importance for laboratories to perform fast functional analysis for novel mutations. Functional studies will allow researchers to define the effect of the mutations.
Amato, Felice, Giuseppe Cardillo, Renato Liguori, Manuela Scorza, Marika Comegna, Ausilia Elce, Sonia Giordano, Laura Lucaccioni, Licia Lugli, Sabrina Cardile, Claudio Romano, Vincenza Pezzella, Giuseppe Castaldo, and Roberto Berni Canani. “Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea.”Journal of Pediatric Gastroenterology and Nutrition (2016): 1. Web.