A new mutation in the C ‐terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho‐hepato‐enteric syndrome in seven patients from two families

We present a detailed description of seven patients of Turkish origin with the same new mutation in TTC37: c.4572 G>A p.(Trp1524X). All seven patients were homozygous for this mutation and presented the typical clinical features of SD/THE, but with a milder presentation than usual. All seven patients were alive at the last follow‐up. Four out of seven patients had no IUGR, and four patients never required parenteral nutrition. All patients presented a better growth rate than previously described in patients with SD/THE, with 4/7 above the 3rd percentile. The mutation is localized only forty amino acids from the end of TTC37, and as TTC37 is longer than the yeast SKI3, it is possible that a truncated protein is expressed and plays a reduced role in the SKI complex.

Source: American Journal of Medical Genetics Part A - January 31, 2018 Category: Genetics & Stem Cells Authors: Alexandre Fabre, Laetitia ‐Marie Petit, Lars F. Hansen, Anne V. Wewer, Clothilde Esteve, Charlène Chaix, Patrice Bourgeois, Catherine Badens, Anders Paerregaard Tags: CLINICAL REPORT Source Type: research