Germline 3p22.1 microdeletion encompassing RPSA gene is an ultra-rare cause of isolated asplenia

Abstract Background 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....

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Autores principales:	Aleksandra Oszer, Katarzyna Bąbol-Pokora, Sylwia Kołtan, Agata Pastorczak, Wojciech Młynarski
Formato:	article
Lenguaje:	EN
Publicado:	BMC 2021
Materias:	Isolated congenital asplenia ICA RPSA Deletion Genetics QH426-470
Acceso en línea:	https://doaj.org/article/9741c56b835f4cb7afe363dee7562643
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spelling	oai:doaj.org-article:9741c56b835f4cb7afe363dee75626432021-11-21T12:03:39ZGermline 3p22.1 microdeletion encompassing RPSA gene is an ultra-rare cause of isolated asplenia10.1186/s13039-021-00571-01755-8166https://doaj.org/article/9741c56b835f4cb7afe363dee75626432021-11-01T00:00:00Zhttps://doi.org/10.1186/s13039-021-00571-0https://doaj.org/toc/1755-8166Abstract Background 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. Case presentation 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 kb deletion encompassing the RPSA gene was observed, together with SLC25A38, SNORA6, SNORA62 and MOBP genes. Despite haploinsufficiency of SLC25A38, SNORA6, SNORA62 and MOBP, no change in the clinical picture was observed. A search of available CNV databases found that a deletion of the RPSA locus seems to be unique and only duplications were found in this region with the frequency of less than 0.02%. Conclusions Copy number variations in RPSA 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 SLC25A38, SNORA6, SNORA62 and MOBP genes does not affect the phenotype of patients. However, to confirm this thesis a longer follow-up of the patient’s development is needed.Aleksandra OszerKatarzyna Bąbol-PokoraSylwia KołtanAgata PastorczakWojciech MłynarskiBMCarticleIsolated congenital aspleniaICARPSADeletionGeneticsQH426-470ENMolecular Cytogenetics, Vol 14, Iss 1, Pp 1-7 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Isolated congenital asplenia ICA RPSA Deletion Genetics QH426-470
spellingShingle	Isolated congenital asplenia ICA RPSA Deletion Genetics QH426-470 Aleksandra Oszer Katarzyna Bąbol-Pokora Sylwia Kołtan Agata Pastorczak Wojciech Młynarski Germline 3p22.1 microdeletion encompassing RPSA gene is an ultra-rare cause of isolated asplenia
description	Abstract Background 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. Case presentation 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 kb deletion encompassing the RPSA gene was observed, together with SLC25A38, SNORA6, SNORA62 and MOBP genes. Despite haploinsufficiency of SLC25A38, SNORA6, SNORA62 and MOBP, no change in the clinical picture was observed. A search of available CNV databases found that a deletion of the RPSA locus seems to be unique and only duplications were found in this region with the frequency of less than 0.02%. Conclusions Copy number variations in RPSA 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 SLC25A38, SNORA6, SNORA62 and MOBP genes does not affect the phenotype of patients. However, to confirm this thesis a longer follow-up of the patient’s development is needed.
format	article
author	Aleksandra Oszer Katarzyna Bąbol-Pokora Sylwia Kołtan Agata Pastorczak Wojciech Młynarski
author_facet	Aleksandra Oszer Katarzyna Bąbol-Pokora Sylwia Kołtan Agata Pastorczak Wojciech Młynarski
author_sort	Aleksandra Oszer
title	Germline 3p22.1 microdeletion encompassing RPSA gene is an ultra-rare cause of isolated asplenia
title_short	Germline 3p22.1 microdeletion encompassing RPSA gene is an ultra-rare cause of isolated asplenia
title_full	Germline 3p22.1 microdeletion encompassing RPSA gene is an ultra-rare cause of isolated asplenia
title_fullStr	Germline 3p22.1 microdeletion encompassing RPSA gene is an ultra-rare cause of isolated asplenia
title_full_unstemmed	Germline 3p22.1 microdeletion encompassing RPSA gene is an ultra-rare cause of isolated asplenia
title_sort	germline 3p22.1 microdeletion encompassing rpsa gene is an ultra-rare cause of isolated asplenia
publisher	BMC
publishDate	2021
url	https://doaj.org/article/9741c56b835f4cb7afe363dee7562643
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Germline 3p22.1 microdeletion encompassing RPSA gene is an ultra-rare cause of isolated asplenia

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