{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,29]],"date-time":"2025-12-29T02:26:04Z","timestamp":1766975164141,"version":"3.48.0"},"reference-count":51,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2025,7,20]],"date-time":"2025-07-20T00:00:00Z","timestamp":1752969600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in\n                    <jats:italic>TTC7A<\/jats:italic>\n                    . GIDID1 is characterized by a broad clinical spectrum ranging from very early\u2010onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations. We report a patient born to consanguineous parents carrying a novel homozygous\n                    <jats:italic>TTC7A<\/jats:italic>\n                    loss\u2010of\u2010function (LOF) variant, NM_001288951.2:c.1322_1323del; p.(Val441Glufs*57). The patient presented with MIA, requiring permanent parenteral nutrition, combined immunodeficiency, anemia, and congenital heart defects, and died at 11\u2009months of age. To improve prognostic insights, we performed a systematic literature review and genotype\u2013phenotype correlation analysis on 87 genetically revised patients, including our case. Our findings confirm a strong association between biallelic\n                    <jats:italic>TTC7A<\/jats:italic>\n                    LOF variants and MIA with (severe) combined immunodeficiency, often necessitating parenteral nutrition. In contrast, biallelic\n                    <jats:italic>TTC7A<\/jats:italic>\n                    missense variants were more frequently linked to milder GIDID1\u2010associated phenotypes, such as VEOIBD. The presence of at least one\n                    <jats:italic>TTC7A<\/jats:italic>\n                    LOF variant correlated with a stronger reduced life expectancy, with a median survival of 9\u2009months compared to 33.5\u2009months in patients with biallelic\n                    <jats:italic>TTC7A<\/jats:italic>\n                    missense variants. Our findings refine genotype\u2013phenotype correlations of\n                    <jats:italic>TTC7A<\/jats:italic>\n                    \u2010associated GIDID1, providing valuable insights for genetic counseling, disease management, and treatment strategies.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.64189","type":"journal-article","created":{"date-parts":[[2025,7,21]],"date-time":"2025-07-21T04:18:39Z","timestamp":1753071519000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genotype\u2013Phenotype Correlation in\n                    <scp>\n                      <i>TTC7A<\/i>\n                    <\/scp>\n                    \u2010Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1"],"prefix":"10.1002","volume":"197","author":[{"given":"Julia","family":"Imhoff","sequence":"first","affiliation":[{"name":"Department of Pediatric Surgery University Medical Center Hamburg\u2010Eppendorf  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