{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,2]],"date-time":"2026-01-02T07:40:50Z","timestamp":1767339650271,"version":"3.37.3"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,11,15]],"date-time":"2021-11-15T00:00:00Z","timestamp":1636934400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,11,15]],"date-time":"2021-11-15T00:00:00Z","timestamp":1636934400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Cytogenet"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Isolated Congenital Asplenia (ICA, OMIM #271400) is a rare, life-threatening abnormality causing immunodeficiency, which is characterized by the absence of a spleen. Diagnosis should be completed in early childhood and antibiotic prophylaxis applied with additional vaccinations.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>We report the case of a six-month old girl with hematologic abnormalities and asplenia documented in imaging, with Howell-Jolly bodies in peripheral blood smear. Targeted Next Generation Sequencing screening did not reveal any pathogenic variant in genes associated with congenital asplenia. Since absence of the spleen was found by imaging, high-resolution copy number variations detection was also performed using genomic Single Nucleotide Polymorphism microarray: a heterozygous 337.2\u00a0kb deletion encompassing the <jats:italic>RPSA<\/jats:italic> gene was observed, together with <jats:italic>SLC25A38<\/jats:italic>, <jats:italic>SNORA6<\/jats:italic>, <jats:italic>SNORA62<\/jats:italic> and <jats:italic>MOBP<\/jats:italic> genes. Despite haploinsufficiency of <jats:italic>SLC25A38<\/jats:italic>, <jats:italic>SNORA6<\/jats:italic>, <jats:italic>SNORA62<\/jats:italic> and <jats:italic>MOBP<\/jats:italic>, no change in the clinical picture was observed. A search of available CNV databases found that a deletion of the <jats:italic>RPSA<\/jats:italic> locus seems to be unique and only duplications were found in this region with the frequency of less than 0.02%.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Copy number variations in <jats:italic>RPSA<\/jats:italic> gene locus are ultrarare cause of isolated asplenia. Furthermore, since the patient does not present any concomitant clinical features, it would appear that haploinsufficiency of <jats:italic>SLC25A38<\/jats:italic>, <jats:italic>SNORA6<\/jats:italic>, <jats:italic>SNORA62<\/jats:italic> and <jats:italic>MOBP<\/jats:italic> genes does not affect the phenotype of patients. However, to confirm this thesis a longer follow-up of the patient\u2019s development is needed.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13039-021-00571-0","type":"journal-article","created":{"date-parts":[[2021,11,15]],"date-time":"2021-11-15T11:03:16Z","timestamp":1636974196000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Germline 3p22.1 microdeletion encompassing RPSA gene is an ultra-rare cause of isolated asplenia"],"prefix":"10.1186","volume":"14","author":[{"given":"Aleksandra","family":"Oszer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katarzyna","family":"B\u0105bol-Pokora","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sylwia","family":"Ko\u0142tan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agata","family":"Pastorczak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2714-5851","authenticated-orcid":false,"given":"Wojciech","family":"M\u0142ynarski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,11,15]]},"reference":[{"issue":"6135","key":"571_CR1","doi-asserted-by":"publisher","first-page":"976","DOI":"10.1126\/science.1234864","volume":"340","author":"A Bolze","year":"2013","unstructured":"Bolze A, Mahlaoui N, Byun M, et al. Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia. Science. 2013;340(6135):976\u20138. https:\/\/doi.org\/10.1126\/science.1234864.","journal-title":"Science"},{"issue":"1","key":"571_CR2","doi-asserted-by":"publisher","first-page":"142","DOI":"10.1016\/j.jpeds.2010.07.027","volume":"158","author":"N Mahlaoui","year":"2011","unstructured":"Mahlaoui N, Minard-Colin V, Picard C, et al. Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases. J Pediatr. 2011;158(1):142\u20138. https:\/\/doi.org\/10.1016\/j.jpeds.2010.07.027.","journal-title":"J Pediatr"},{"issue":"7","key":"571_CR3","doi-asserted-by":"publisher","first-page":"368","DOI":"10.1007\/s00431-002-0965-1","volume":"161","author":"B Gilbert","year":"2002","unstructured":"Gilbert B, Menetrey C, Belin V, Brosset P, de Lumley L, Fisher A. Familial isolated congenital asplenia: a rare, frequently hereditary dominant condition, often detected too late as a cause of overwhelming pneumococcal sepsis. Report of a new case and review of 31 others. Eur J Pediatr. 2002;161(7):368\u201372. https:\/\/doi.org\/10.1007\/s00431-002-0965-1.","journal-title":"Eur J Pediatr"},{"key":"571_CR4","volume-title":"Asplenia","author":"D Ashorobi","year":"2020","unstructured":"Ashorobi D, Fernandez R. Asplenia. StatPearls Publishing; 2020."},{"key":"571_CR5","doi-asserted-by":"publisher","first-page":"486","DOI":"10.1016\/j.ijid.2020.07.013","volume":"98","author":"JM Kang","year":"2020","unstructured":"Kang JM, Kim EH, Ihn K, Jung I, Han M, Ahn JG. Risk of invasive pneumococcal disease in patients with asplenia\/hyposplenism: a nationwide population-based study in Korea, 2009\u20132018. 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