Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease

João Farela Neves, Isabel Afonso, Luis Borrego, Catarina Martins, Ana Isabel Cordeiro, Conceição Neves, Caroline Lacoste, Catherine Badens, Alexandre Fabre

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

Tricho-hepato-enteric syndrome (SD/THE) and Multiple intestinal atresia with combined immune deficiency (MIA-CID) are autosomal recessive disorders that present immunological and gastrointestinal features. There are two different phenotypes of patients with TTC7A mutations: the severe form, caused by null mutations and leading to the classical MIA-CID; and the mild form, caused by missense mutations and leading to predominant features of VEO-IBD, less severe immunological involvement and hair abnormalities. We expand the knowledge about TTC7A deficiency, describing a patient with the mild phenotype of TTC7A deficiency but presenting overlapping features of SD/THE and MIA-CID: intestinal atresia and inflammatory bowel disease evocative of MIA-CID, but also dental abnormalities, huge forehead, liver abnormalities, autoimmune thyroiditis and hypogammaglobulinemia, evocative of SD/THE.

Original languageEnglish
Pages (from-to)185-188
Number of pages4
JournalAmerican journal of human genetics
Volume61
Issue number4
Early online date22 Nov 2017
DOIs
Publication statusPublished - Apr 2018

Keywords

  • SKIVL2
  • TTC37
  • TTC7A
  • Very early onset-inflammatory bowel disease

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