AI Article Synopsis

  • - The study focused on diagnosing inherited bone marrow failure syndromes (IBMFS) in 130 Korean patients, using various genomic sequencing methods to tackle diagnostic difficulties due to overlapping symptoms and genetic variability.
  • - A significant 50% of the patients achieved a genomic diagnosis, with classic IBMFS mutations identified mainly through targeted next-generation sequencing (NGS) and clinical exome sequencing (CES), while a newly defined syndrome (AmeDS) was found solely via CES.
  • - Additionally, 30 patients were diagnosed with other congenital diseases, demonstrating CES's effectiveness in revealing a range of conditions, emphasizing the importance of thorough genomic analysis in understanding IBMFS and its complexities.

Article Abstract

Inherited bone marrow failure syndromes (IBMFS) pose significant diagnostic challenges due to overlapping symptoms and variable expressivity, despite evolving genomic insights. The study aimed to elucidate the genomic landscape among 130 Korean patients with IBMFS. We conducted targeted next-generation sequencing (NGS) and clinical exome sequencing (CES) across the cohort, complemented by whole genome sequencing (WGS) and chromosomal microarray (CMA) in 12 and 47 cases, respectively, with negative initial results. Notably, 50% (n = 65) of our cohort achieved a genomic diagnosis. Among these, 35 patients exhibited mutations associated with classic IBMFSs (n = 33) and the recently defined IBMFS, aplastic anaemia, mental retardation and dwarfism syndrome (AmeDS, n = 2). Classic IBMFSs were predominantly detected via targeted NGS (85%, n = 28) and CES (88%, n = 29), whereas AMeDS was exclusively identified through CES. Both CMA and WGS aided in identifying copy number variations (n = 2) and mutations in previously unexplored regions (n = 2). Additionally, 30 patients were diagnosed with other congenital diseases, encompassing 13 distinct entities including inherited thrombocytopenia (n = 12), myeloid neoplasms with germline predisposition (n = 8), congenital immune disorders (n = 7) and miscellaneous genomic conditions (n = 3). CES was particularly effective in revealing these diverse diagnoses. Our findings underscore the significance of comprehensive genomic analysis in IBMFS, highlighting the need for ongoing exploration in this complex field.

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Source
http://dx.doi.org/10.1111/bjh.19509DOI Listing

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