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

Eur J Med Genet. 2018 Apr;61(4):185-188. doi: 10.1016/j.ejmg.2017.11.014. Epub 2017 Nov 23.

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.

Keywords: SKIVL2; TTC37; TTC7A; Very early onset-inflammatory bowel disease.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Diagnosis, Differential
  • Diarrhea, Infantile / genetics
  • Diarrhea, Infantile / pathology*
  • Facies
  • Female
  • Fetal Growth Retardation / genetics
  • Fetal Growth Retardation / pathology*
  • Hair Diseases / genetics
  • Hair Diseases / pathology*
  • Humans
  • Inflammatory Bowel Diseases / genetics
  • Inflammatory Bowel Diseases / pathology*
  • Intestinal Atresia / genetics
  • Intestinal Atresia / pathology*
  • Mutation, Missense*
  • Phenotype*
  • Proteins / genetics*

Substances

  • Proteins
  • TTC7A protein, human

Supplementary concepts

  • Intestinal Atresia, Multiple
  • Trichohepatoenteric Syndrome