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

7 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

Fingerprint

Missense Mutation
Inflammatory Bowel Diseases
Tooth Abnormalities
Intestinal Atresia
Phenotype
Autoimmune Thyroiditis
Agammaglobulinemia
Mutation
Forehead
Hair
Multiple Intestinal Atresia
Liver

Keywords

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

Cite this

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title = "Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease",
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",
author = "Neves, {Jo{\~a}o Farela} and Isabel Afonso and Luis Borrego and Catarina Martins and Cordeiro, {Ana Isabel} and Concei{\cc}{\~a}o Neves and Caroline Lacoste and Catherine Badens and Alexandre Fabre",
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year = "2018",
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language = "English",
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Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease. / Neves, João Farela; Afonso, Isabel; Borrego, Luis; Martins, Catarina; Cordeiro, Ana Isabel; Neves, Conceição; Lacoste, Caroline; Badens, Catherine; Fabre, Alexandre.

In: American journal of human genetics, Vol. 61, No. 4, 04.2018, p. 185-188.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease

AU - Neves, João Farela

AU - Afonso, Isabel

AU - Borrego, Luis

AU - Martins, Catarina

AU - Cordeiro, Ana Isabel

AU - Neves, Conceição

AU - Lacoste, Caroline

AU - Badens, Catherine

AU - Fabre, Alexandre

N1 - Copyright © 2017. Published by Elsevier Masson SAS.

PY - 2018/4

Y1 - 2018/4

N2 - 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.

AB - 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.

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KW - TTC37

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M3 - Article

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SP - 185

EP - 188

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JF - American journal of human genetics

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