Hereditary multiple intestinal atresias: 2 new cases and review of the literature

Conrad, C K; Freitas, Alessandrina M.; Clifton, Matthew S.; Durham, Megan M.

doi:10.1016/j.jpedsurg.2010.01.017

Cited by 26 publications

(6 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…10 Recurrence of cases in the same sibship 3, 6, 7, 11, 12 and parental consanguinity 5, 11, 13–15 have since been reported in several other families of various descent.…”

Section: Introductionmentioning

confidence: 98%

“…The association of MIA with immunodeficiency was reported for the first time in 1990 3 , and confirmed by several additional studies. 4–7 Severe combined immunodeficiency (SCID), leading to increased susceptibility to bacterial and opportunistic infections, 4–7 and fatal graft-versus-host disease (GvHD) following transfusion of unirradiated blood products or combined liver and small bowel transplantation have been reported. 8, 9 …”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Whole-exome sequencing identifies tetratricopeptide repeat domain 7A ( TTC7A ) mutations for combined immunodeficiency with intestinal atresias

Chen

Giliani

Lanzi

et al. 2013

Journal of Allergy and Clinical Immunology

142

152

View full text Add to dashboard Cite

Background Combined Immunodeficiency with Multiple Intestinal Atresias (CID-MIA) is a rare hereditary disease characterized by intestinal obstructions and profound immune defects. Objective We sought to determine the underlying genetic causes of CID-MIA by analyzing the exomic sequence of 5 patients and their healthy direct relatives from 5 unrelated families. Methods We performed whole exome sequencing on 5 CID-MIA patients and 10 healthy direct family members belonging to 5 unrelated families with CID-MIA. We also performed targeted Sanger sequencing for the candidate gene TTC7A on 3 additional CID-MIA patients. Results Through analysis and comparison of the exomic sequence of the individuals from these 5 families, we identified biallelic damaging mutations in the TTC7A gene, for a total of 7 distinct mutations. Targeted TTC7A gene sequencing in 3 additional unrelated patients with CID-MIA revealed biallelic deleterious mutations in two of them, as well as an aberrant splice product in the third patient. Staining of normal thymus showed that the TTC7A protein is expressed in thymic epithelial cells as well as in thymocytes. Moreover, severe lymphoid depletion was observed in the thymus and peripheral lymphoid tissues from two patients with CID-MIA. Conclusions We identified deleterious mutations of the TTC7A gene in 8 unrelated patients with CID-MIA and demonstrated that the TTC7A protein is expressed in the thymus. Our results strongly suggest that TTC7A gene defects cause CID-MIA. Clinical Implications Damaging mutations in the gene TTC7A should be scrutinized in patients with CID-MIA. Characterization of the role of this protein in the immune system and intestinal development, as well as in thymic epithelial cells may have important therapeutic implications.

show abstract

“…10 Recurrence of cases in the same sibship 3, 6, 7, 11, 12 and parental consanguinity 5, 11, 13–15 have since been reported in several other families of various descent.…”

Section: Introductionmentioning

confidence: 98%

Section: Introductionmentioning

confidence: 99%

Whole-exome sequencing identifies tetratricopeptide repeat domain 7A ( TTC7A ) mutations for combined immunodeficiency with intestinal atresias

Chen

Giliani

Lanzi

et al. 2013

Journal of Allergy and Clinical Immunology

142

152

View full text Add to dashboard Cite

show abstract

“…Duodenal epithelial enteroids from these patients had partial loss of microvilli, inappropriate accumulation of vesicles, and absence of STX3 protein 120 . Patients with MIA can develop atresia from the stomach to rectum 123 . Using a combination of genome-wide linkage analysis and whole-exome sequencing, Bigorge et al and Avitzur et al identified previously uncharacterized mutations in the tetratricopeptide repeat domain–7A ( TTC7A ) of patients with MIA and combined immunodeficiency.…”

Section: Models Of Gi Diseasementioning

confidence: 99%

Organoid Models of Human Gastrointestinal Development and Disease

et al. 2016

View full text Add to dashboard Cite

We have greatly advanced our ability to grow a diverse range of tissue-derived and pluripotent stem cell-derived gastrointestinal (GI) tissues in vitro. These systems, broadly referred to as organoids, have allowed the field to move away from the often non-physiologic, transformed cell lines that have been used for decades in GI research. Organoids are derived from primary tissues and have the capacity for long-term growth. They contain varying levels of cellular complexity and physiologic similarity to native organ systems. We review the latest discoveries from studies of tissue-derived and pluripotent stem cell-derived intestinal, gastric, esophageal, liver, and pancreatic organoids. These studies have provided important insights into GI development, tissue homeostasis, and disease and might be used to develop personalized medicines.

show abstract

“…Additionally, atresias primarily affect a limited area of intestine and are rarely hereditary. 56 These clinical characteristics argue that atresias arise from a somatic mutation that disrupts a common developmental process in the embryonic gut.…”

Section: What Does the Clinical Presentation Of Intestinal Atresias Rmentioning

confidence: 99%

“…Duodenal atresias, in addition to having a significant association with Down syndrome, also present with a high incidence of anomalies of other midline structures, including the esophagus, pancreatic duct, bile duct, heart, and rectum. 56,57 Like the duodenum, these other structures initiate development in the midline of the embryo, and with the exception of the heart, are all derived in part from endoderm. The heart is not composed of endoderm, but cardiac myoblasts come into direct contact with the foregut endoderm during their migration out of the heart fields prior to forming the heart tube.…”

Section: In What Tissue Would a Disruption In A Common Developmental mentioning

confidence: 99%

Humans, Mice, and Mechanisms of Intestinal Atresias: A Window into Understanding Early Intestinal Development

Nichol

Reeder

Botham

2011

Journal of Gastrointestinal Surgery

View full text Add to dashboard Cite

Introduction Intestinal atresias have long been hypothesized to result from either failure of recanalization of the intestinal lumen or in utero vascular accidents. Recent work in animal models is now calling for a reassessment of these widely held paradigms. Purpose In this review, we will examine the data that led to the original hypotheses and then evaluate more recent work challenging these hypotheses. Furthermore, we will discuss how defining the mechanism of atresia formation in animal models may provide insight into early intestinal development and the mechanism of lengthwise intestinal growth. Conclusion Such insight will be critical in developing regenerative therapies for patients with intestinal failure.

show abstract

Hereditary multiple intestinal atresias: 2 new cases and review of the literature

Cited by 26 publications

References 14 publications

Whole-exome sequencing identifies tetratricopeptide repeat domain 7A ( TTC7A ) mutations for combined immunodeficiency with intestinal atresias

Whole-exome sequencing identifies tetratricopeptide repeat domain 7A ( TTC7A ) mutations for combined immunodeficiency with intestinal atresias

Organoid Models of Human Gastrointestinal Development and Disease

Humans, Mice, and Mechanisms of Intestinal Atresias: A Window into Understanding Early Intestinal Development

Contact Info

Product

Resources

About