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TTC7A Mutations for Combined Immunodeficiency with Intestinal Atresia

ABSTRACT:

Combined Immunodeficiency with Multiple Intestinal Atresias (CID-MIA) is a rare genetic disorder with the cause previously unknown. Symptoms of CID-MIA include atresias in the small and/or large intestine, as well as immunodeficiency. In this study, we sequenced the whole exome of 5 unrelated CID-MIA patients as well as their healthy family members, and identified deleterious homozygous or compound heterozygous mutations in the gene TTC7A in all the 5 patients, as well as in 3 additional patients with Sanger sequencing. Our findings strongly indicate TTC7A dysfunction to be the cause for CID-MIA.

PROVIDER: phs000641 | dbGaP |

SECONDARY ACCESSION(S): PRJNA213363PRJNA213364

REPOSITORIES: dbGaP

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			Action	DRS
	GapExchange_phs000641.v1.p1.xml	Xml
	dbGaPEx2.1.5.xsd	Other
	Study_Report.phs000641.Combined_Immunodeficiency.v1.p1.MULTI.pdf	Pdf
	manifest_phs000641.Combined_Immunodeficiency.v1.p1.c1.GRU-IRB.pdf	Pdf
	datadict_v2.xsl	Other

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Whole Exome Sequencing Identifies TTC7A Mutations for Combined Immunodeficiency with Intestinal Atresia

Project description:Combined Immunodeficiency with Multiple Intestinal Atresias (CID-MIA) is a rare genetic disorder with the cause previously unknown. Symptoms of CID-MIA include atresias in the small and/or large intestine, as well as immunodeficiency. In this study, we sequenced the whole exome of 5 unrelated CID-MIA patients as well as their healthy family members, and identified deleterious homozygous or compound heterozygous mutations in the gene TTC7A in all the 5 patients, as well as in 3 additional patients with Sanger sequencing. Our findings strongly indicate TTC7A dysfunction to be the cause for CID-MIA.

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