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

Combined immunodeficiency with multiple intestinal atresias (CID-MIA) is a rare hereditary disease characterized by intestinal obstructions and profound immune defects. We sought to determine the underlying genetic causes of CID-MIA by analyzing the exomic sequences of 5 patients and their healthy d...

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Published inJournal of allergy and clinical immunology Vol. 132; no. 3; pp. 656 - 664.e17
Main Authors Chen, Rui, Giliani, Silvia, Lanzi, Gaetana, Mias, George I., Lonardi, Silvia, Dobbs, Kerry, Manis, John, Im, Hogune, Gallagher, Jennifer E., Phanstiel, Douglas H., Euskirchen, Ghia, Lacroute, Philippe, Bettinger, Keith, Moratto, Daniele, Weinacht, Katja, Montin, Davide, Gallo, Eleonora, Mangili, Giovanna, Porta, Fulvio, Notarangelo, Lucia D., Pedretti, Stefania, Al-Herz, Waleed, Alfahdli, Wasmi, Comeau, Anne Marie, Traister, Russell S., Pai, Sung-Yun, Carella, Graziella, Facchetti, Fabio, Nadeau, Kari C., Snyder, Michael, Notarangelo, Luigi D.
Format Journal Article
LanguageEnglish
Published New York, NY Elsevier Inc 01.09.2013
Elsevier
Elsevier Limited
Subjects
Allergy and Immunology
Animals
Biological and medical sciences
Child, Preschool
Combined immunodeficiency with multiple intestinal atresias
Deoxyribonucleic acid
DNA
epithelial cells
Exome - genetics
Families & family life
Female
Fundamental and applied biological sciences. Psychology
Fundamental immunology
Genes
genetic disorders
Humans
Immunologic Deficiency Syndromes - genetics
Immunopathology
immunosuppression
Infant
Infant, Newborn
Intestinal Atresia - genetics
Intestines - abnormalities
Male
Medical laboratories
Medical sciences
Mice
Mutation
Oligonucleotide Array Sequence Analysis
Parents & parenting
Patients
Proteins - genetics
RNA, Messenger - metabolism
Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis
Sepsis
tetratricopeptide repeat domain 7A
thymocytes
thymus
Thymus Gland - metabolism
Tissue Array Analysis
tissues
whole-exome sequencing
thymus
Indels
NMD
WES
GvHD
TTC7A
SCID
GATK
CID-MIA
tetratricopeptide repeat domain 7A
HCT
SNV
Combined immunodeficiency with multiple intestinal atresias
TREC
whole-exome sequencing
Graft-versus-host disease
Nonsense-mediated decay
Severe combined immunodeficiency
T-cell receptor excision circle
Hematopoietic cell transplantation
Insertions and/or deletions
Genome Analysis Toolkit
Single nucleotide variant
Immunopathology
Multiple
Thymus gland
Digestive system
Gut
Immunology
Exome sequencing
Atresia
Genetics
Mutation
Combined immune deficiency
Whole-exome sequencing
Tetratricopeptide repeat domain 7A
Online AccessGet full text
ISSN0091-6749
1097-6825
1097-6825
DOI10.1016/j.jaci.2013.06.013

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Abstract Combined immunodeficiency with multiple intestinal atresias (CID-MIA) is a rare hereditary disease characterized by intestinal obstructions and profound immune defects. We sought to determine the underlying genetic causes of CID-MIA by analyzing the exomic sequences of 5 patients and their healthy direct relatives from 5 unrelated families. We performed whole-exome sequencing on 5 patients with CID-MIA and 10 healthy direct family members belonging to 5 unrelated families with CID-MIA. We also performed targeted Sanger sequencing for the candidate gene tetratricopeptide repeat domain 7A (TTC7A) on 3 additional patients with CID-MIA. Through analysis and comparison of the exomic sequence of the subjects 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 2 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 2 patients with CID-MIA. 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.
AbstractList 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 sequences of 5 patients and their healthy direct relatives from 5 unrelated families. Methods: We performed whole-exome sequencing on 5 patients with CID-MIA and 10 healthy direct family members belonging to 5 unrelated families with CID-MIA. We also performed targeted Sanger sequencing for the candidate gene tetratricopeptide repeat domain 7A (TTC7A) on 3 additional patients with CID-MIA. Results: Through analysis and comparison of the exomic sequence of the subjects 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 2 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 2 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.
Combined immunodeficiency with multiple intestinal atresias (CID-MIA) is a rare hereditary disease characterized by intestinal obstructions and profound immune defects. We sought to determine the underlying genetic causes of CID-MIA by analyzing the exomic sequences of 5 patients and their healthy direct relatives from 5 unrelated families. We performed whole-exome sequencing on 5 patients with CID-MIA and 10 healthy direct family members belonging to 5 unrelated families with CID-MIA. We also performed targeted Sanger sequencing for the candidate gene tetratricopeptide repeat domain 7A (TTC7A) on 3 additional patients with CID-MIA. Through analysis and comparison of the exomic sequence of the subjects 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 2 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 2 patients with CID-MIA. 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.
Combined immunodeficiency with multiple intestinal atresias (CID-MIA) is a rare hereditary disease characterized by intestinal obstructions and profound immune defects.BACKGROUNDCombined immunodeficiency with multiple intestinal atresias (CID-MIA) is a rare hereditary disease characterized by intestinal obstructions and profound immune defects.We sought to determine the underlying genetic causes of CID-MIA by analyzing the exomic sequences of 5 patients and their healthy direct relatives from 5 unrelated families.OBJECTIVEWe sought to determine the underlying genetic causes of CID-MIA by analyzing the exomic sequences of 5 patients and their healthy direct relatives from 5 unrelated families.We performed whole-exome sequencing on 5 patients with CID-MIA and 10 healthy direct family members belonging to 5 unrelated families with CID-MIA. We also performed targeted Sanger sequencing for the candidate gene tetratricopeptide repeat domain 7A (TTC7A) on 3 additional patients with CID-MIA.METHODSWe performed whole-exome sequencing on 5 patients with CID-MIA and 10 healthy direct family members belonging to 5 unrelated families with CID-MIA. We also performed targeted Sanger sequencing for the candidate gene tetratricopeptide repeat domain 7A (TTC7A) on 3 additional patients with CID-MIA.Through analysis and comparison of the exomic sequence of the subjects 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 2 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 2 patients with CID-MIA.RESULTSThrough analysis and comparison of the exomic sequence of the subjects 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 2 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 2 patients with CID-MIA.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.CONCLUSIONSWe 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.
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 sequences of 5 patients and their healthy direct relatives from 5 unrelated families. Methods We performed whole-exome sequencing on 5 patients with CID-MIA and 10 healthy direct family members belonging to 5 unrelated families with CID-MIA. We also performed targeted Sanger sequencing for the candidate gene tetratricopeptide repeat domain 7A (TTC7A) on 3 additional patients with CID-MIA. Results Through analysis and comparison of the exomic sequence of the subjects from these 5 families, we identified biallelic damaging mutations in theTTC7Agene, for a total of 7 distinct mutations. TargetedTTC7Agene sequencing in 3 additional unrelated patients with CID-MIA revealed biallelic deleterious mutations in 2 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 2 patients with CID-MIA. Conclusions We identified deleterious mutations of theTTC7Agene in 8 unrelated patients with CID-MIA and demonstrated that the TTC7A protein is expressed in the thymus. Our results strongly suggest thatTTC7Agene defects cause CID-MIA.
Author Euskirchen, Ghia
Mias, George I.
Manis, John
Moratto, Daniele
Alfahdli, Wasmi
Lanzi, Gaetana
Mangili, Giovanna
Traister, Russell S.
Lacroute, Philippe
Al-Herz, Waleed
Nadeau, Kari C.
Giliani, Silvia
Bettinger, Keith
Notarangelo, Lucia D.
Pai, Sung-Yun
Weinacht, Katja
Gallo, Eleonora
Porta, Fulvio
Phanstiel, Douglas H.
Carella, Graziella
Montin, Davide
Snyder, Michael
Notarangelo, Luigi D.
Chen, Rui
Dobbs, Kerry
Lonardi, Silvia
Gallagher, Jennifer E.
Comeau, Anne Marie
Im, Hogune
Facchetti, Fabio
Pedretti, Stefania
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  organization: A. Nocivelli Institute for Molecular Medicine, Pediatric Clinic, University of Brescia, and the Section of Genetics, Department of Pathology Spedali Civili, Brescia, Italy
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  organization: A. Nocivelli Institute for Molecular Medicine, Pediatric Clinic, University of Brescia, and the Section of Genetics, Department of Pathology Spedali Civili, Brescia, Italy
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  organization: Department of Genetics, Stanford University School of Medicine, Stanford, Calif
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  organization: Department of Pathology, University of Brescia, Brescia, Italy
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  organization: Division of Immunology, Boston Children's Hospital, Harvard Medical School, Harvard Stem Cell Institute, Boston, Mass
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  organization: Department of Genetics, Stanford University School of Medicine, Stanford, Calif
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CODEN JACIBY
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Issue 3
Keywords thymus
Indels
NMD
WES
GvHD
TTC7A
SCID
GATK
CID-MIA
tetratricopeptide repeat domain 7A
HCT
SNV
Combined immunodeficiency with multiple intestinal atresias
TREC
whole-exome sequencing
Graft-versus-host disease
Nonsense-mediated decay
Severe combined immunodeficiency
T-cell receptor excision circle
Hematopoietic cell transplantation
Insertions and/or deletions
Genome Analysis Toolkit
Single nucleotide variant
Immunopathology
Multiple
Thymus gland
Digestive system
Gut
Immunology
Exome sequencing
Atresia
Genetics
Mutation
Combined immune deficiency
Whole-exome sequencing
Tetratricopeptide repeat domain 7A
Language English
License https://www.elsevier.com/tdm/userlicense/1.0
CC BY 4.0
Copyright © 2013 American Academy of Allergy, Asthma & Immunology. Published by Mosby, Inc. All rights reserved.
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Snippet Combined immunodeficiency with multiple intestinal atresias (CID-MIA) is a rare hereditary disease characterized by intestinal obstructions and profound immune...
Background Combined immunodeficiency with multiple intestinal atresias (CID-MIA) is a rare hereditary disease characterized by intestinal obstructions and...
Background: Combined immunodeficiency with multiple intestinal atresias (CID-MIA) is a rare hereditary disease characterized by intestinal obstructions and...
BACKGROUND: Combined immunodeficiency with multiple intestinal atresias (CID-MIA) is a rare hereditary disease characterized by intestinal obstructions and...
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SubjectTerms Allergy and Immunology
Animals
Biological and medical sciences
Child, Preschool
Combined immunodeficiency with multiple intestinal atresias
Deoxyribonucleic acid
DNA
epithelial cells
Exome - genetics
Families & family life
Female
Fundamental and applied biological sciences. Psychology
Fundamental immunology
Genes
genetic disorders
Humans
Immunologic Deficiency Syndromes - genetics
Immunopathology
immunosuppression
Infant
Infant, Newborn
Intestinal Atresia - genetics
Intestines - abnormalities
Male
Medical laboratories
Medical sciences
Mice
Mutation
Oligonucleotide Array Sequence Analysis
Parents & parenting
Patients
Proteins - genetics
RNA, Messenger - metabolism
Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis
Sepsis
tetratricopeptide repeat domain 7A
thymocytes
thymus
Thymus Gland - metabolism
Tissue Array Analysis
tissues
whole-exome sequencing
Title Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias
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https://dx.doi.org/10.1016/j.jaci.2013.06.013
https://www.ncbi.nlm.nih.gov/pubmed/23830146
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Volume 132
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