{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,10]],"date-time":"2025-05-10T09:28:29Z","timestamp":1746869309104,"version":"3.37.3"},"reference-count":28,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,4,21]],"date-time":"2017-04-21T00:00:00Z","timestamp":1492732800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"CR-UK Senior Fellowship","award":["(C17183\/A1303)"],"award-info":[{"award-number":["(C17183\/A1303)"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,6]]},"abstract":"<jats:sec><jats:label\/><jats:p>3q27.2\u2010qter deletion syndromes feature an overlapping set of terminal and interstitial deletions with variable congenital malformations. Diamond\u2013Blackfan anemia (DBA) is etiologically heterogeneous disorder in which one cause is dominant mutations of the <jats:italic>RPL35A<\/jats:italic> gene on 3q29. We report a child with a 3q27.2\u2010qter deletion that contains the <jats:italic>RPL35A<\/jats:italic> gene. She had clinical and laboratory features consistent with DBA and as well, an unexplained immunodeficiency disorder. Given these unusual findings, we reviewed other patients in the literature with overlapping genomic deletions. In addition, we evaluated our patient for the immunodeficiency disorder, RIDDLE syndrome, due to recessive mutations in the <jats:italic>RNF168<\/jats:italic> gene on 3q29. A PubMed search for case reports of 3q27.2\u2010qter overlapping deletions was performed. To determine if <jats:italic>RPL35A<\/jats:italic> was in the deletion region, the chromosomal regions reported were mapped to genomic regions using the UCSC Genome Browser. We identified 85 overlapping deletions, of which six included the <jats:italic>RPL35A<\/jats:italic> gene and all should be had DBA. Interestingly, none of the reported cases had immunodeficiency. To evaluate RIDDLE syndrome (radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties), we sequenced the remaining <jats:italic>RNF168<\/jats:italic> gene and examined her fibroblast culture for a DNA double strand break repair deficiency. These results were normal, indicating that the immunodeficiency is unlikely to result from a <jats:italic>RNF168<\/jats:italic> deficiency. We show that <jats:italic>RPL35A<\/jats:italic> haploinsufficiency is a cause of DBA and we report a novel case with 3q27.2\u2010qter deletion and immunodeficiency. The etiology for the immunodeficiency remains unsolved and could be caused by an unknown gene effect or consequent to the DBA phenotype.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38208","type":"journal-article","created":{"date-parts":[[2017,4,22]],"date-time":"2017-04-22T04:57:36Z","timestamp":1492837056000},"page":"1514-1520","source":"Crossref","is-referenced-by-count":6,"title":["Novel 3q27.2\u2010qter deletion in a patient with Diamond\u2013Blackfan anemia and immunodeficiency: Case report and review of literature"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9026-7002","authenticated-orcid":false,"given":"Ebba","family":"Alkhunaizi","sequence":"first","affiliation":[{"name":"Department of Medical Genetics and Pediatrics McGill University Health Centre Montr\u00e9al Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brett","family":"Schrewe","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of British Columbia Vancouver British Columbia Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reza","family":"Alizadehfar","sequence":"additional","affiliation":[{"name":"Department of Pediatric Allergy and Immunology McGill University Health Centre Montr\u00e9al Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"V\u00e9zina","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology and Oncology McGill University Health Centre Montr\u00e9al Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Grant S.","family":"Stewart","sequence":"additional","affiliation":[{"name":"Institute for Cancer and Genomic Sciences University of Birmingham Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nancy","family":"Braverman","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Pediatrics McGill University Health Centre Montr\u00e9al Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,4,21]]},"reference":[{"key":"e_1_2_8_2_1","first-page":"109","article-title":"De novo del(3)(q2800)","volume":"27","author":"Alvarez Arratia M. 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