Joshua Glass, Julia Weston, Amy Feldman Lewanda, Suvankar Majumdar
{"title":"第二例菱形黑方贫血症婴儿的 RPL27 基因新变异。","authors":"Joshua Glass, Julia Weston, Amy Feldman Lewanda, Suvankar Majumdar","doi":"10.1155/2024/6626388","DOIUrl":null,"url":null,"abstract":"<p><p>We describe a 10-month-old female with Diamond-Blackfan anemia (DBA) who presented with macrocytic anemia and reticulocytopenia. Whole exome sequencing revealed a <i>de novo</i> intronic variant in <i>RPL27</i> (NM_000988.3:c.-2-1G > A p.?) previously reported in one individual with DBA. The existing literature suggests the <i>RPL27</i> gene encodes for a ribosomal protein involved in pre-rRNA processing and erythropoiesis. Further research is needed to assess the functional significance of this variant and its implications for genetic testing and therapeutic strategies. This case expands the clinical spectrum of <i>RPL27</i>-associated DBA and highlights the importance of reclassifying this gene to likely pathogenic.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2024 ","pages":"6626388"},"PeriodicalIF":0.7000,"publicationDate":"2024-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11236463/pdf/","citationCount":"0","resultStr":"{\"title\":\"<i>De Novo</i> Variant in the <i>RPL27</i> Gene in a Second Infant with Diamond-Blackfan Anemia.\",\"authors\":\"Joshua Glass, Julia Weston, Amy Feldman Lewanda, Suvankar Majumdar\",\"doi\":\"10.1155/2024/6626388\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>We describe a 10-month-old female with Diamond-Blackfan anemia (DBA) who presented with macrocytic anemia and reticulocytopenia. Whole exome sequencing revealed a <i>de novo</i> intronic variant in <i>RPL27</i> (NM_000988.3:c.-2-1G > A p.?) previously reported in one individual with DBA. The existing literature suggests the <i>RPL27</i> gene encodes for a ribosomal protein involved in pre-rRNA processing and erythropoiesis. Further research is needed to assess the functional significance of this variant and its implications for genetic testing and therapeutic strategies. This case expands the clinical spectrum of <i>RPL27</i>-associated DBA and highlights the importance of reclassifying this gene to likely pathogenic.</p>\",\"PeriodicalId\":46307,\"journal\":{\"name\":\"Case Reports in Hematology\",\"volume\":\"2024 \",\"pages\":\"6626388\"},\"PeriodicalIF\":0.7000,\"publicationDate\":\"2024-07-03\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11236463/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Case Reports in Hematology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1155/2024/6626388\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q4\",\"JCRName\":\"HEMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Case Reports in Hematology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1155/2024/6626388","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"HEMATOLOGY","Score":null,"Total":0}
De Novo Variant in the RPL27 Gene in a Second Infant with Diamond-Blackfan Anemia.
We describe a 10-month-old female with Diamond-Blackfan anemia (DBA) who presented with macrocytic anemia and reticulocytopenia. Whole exome sequencing revealed a de novo intronic variant in RPL27 (NM_000988.3:c.-2-1G > A p.?) previously reported in one individual with DBA. The existing literature suggests the RPL27 gene encodes for a ribosomal protein involved in pre-rRNA processing and erythropoiesis. Further research is needed to assess the functional significance of this variant and its implications for genetic testing and therapeutic strategies. This case expands the clinical spectrum of RPL27-associated DBA and highlights the importance of reclassifying this gene to likely pathogenic.
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