{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T08:35:37Z","timestamp":1791275737920,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2015,1,23]],"date-time":"2015-01-23T00:00:00Z","timestamp":1421971200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Hong Kong Health and Medical Research Fund","award":["01120846"],"award-info":[{"award-number":["01120846"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2015,12]]},"abstract":"<jats:p>Familial multiple intestinal atresias is an autosomal recessive disease with or without combined immunodeficiency. In the last year, several reports have described mutations in the gene <jats:italic><jats:styled-content style=\"fixed-case\">TTC7A<\/jats:styled-content><\/jats:italic> as causal to the disease in different populations. However, exact correlation between different genotypes and various phenotypes are not clear. In this study, we report identification of novel compound heterozygous mutations in <jats:italic><jats:styled-content style=\"fixed-case\">TTC7A<\/jats:styled-content><\/jats:italic> gene in a Malay girl with familial multiple intestinal atresias and severe combined immunodeficiency (<jats:styled-content style=\"fixed-case\">MIA\u2010SCID<\/jats:styled-content>) by whole exome sequencing. We found two mutations in <jats:italic><jats:styled-content style=\"fixed-case\">TTC7A<\/jats:styled-content><\/jats:italic>: one that destroyed a putative splicing acceptor at the junction of intron 17\/exon 18 and one that introduced a stop codon that would truncate the last two amino acids of the encoded protein. Reviewing the recent reports on <jats:italic><jats:styled-content style=\"fixed-case\">TTC7A<\/jats:styled-content><\/jats:italic> mutations reveals correlation between the position and nature of the mutations with patient survival and clinical manifestations. Examination of public databases also suggests carrier status for healthy individuals, making a case for population screening on this gene, especially in populations with suspected frequent founder mutations.<\/jats:p>","DOI":"10.1111\/cge.12553","type":"journal-article","created":{"date-parts":[[2014,12,23]],"date-time":"2014-12-23T10:34:46Z","timestamp":1419330886000},"page":"542-549","source":"Crossref","is-referenced-by-count":34,"title":["Compound heterozygous mutations in <scp>TTC7A<\/scp> cause familial multiple intestinal atresias and severe combined immunodeficiency"],"prefix":"10.1111","volume":"88","author":[{"given":"W.","family":"Yang","sequence":"first","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Faculty of Medicine The University of Hong Kong  Hong Kong SAR Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.P.W.","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Faculty of Medicine The University of Hong Kong  Hong Kong SAR Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.\u2010K.","family":"Thong","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Faculty of Medicine University of Malaya  Kuala Lumpur Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.M.","family":"Ramanujam","sequence":"additional","affiliation":[{"name":"Division of Paediatric Surgery &amp; Paediatric Urology University of Malaya  Kuala Lumpur Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Shanmugam","sequence":"additional","affiliation":[{"name":"Division of Paediatric Surgery &amp; Paediatric Urology University of Malaya  Kuala Lumpur Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.\u2010T.","family":"Koh","sequence":"additional","affiliation":[{"name":"Department of 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