Bone Marrow Failure Syndrome (BMFS) Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Shwachman-Diamond Syndrome With Congenital Myogenic Ptosis: Case Report of a Rare Association?
Conclusion: The association of ptosis and other congenital bone marrow failure syndromes is well established, but this is the first description of SDS with ptosis. This association may expand our understanding of SDS phenotypes if similar cases are reported in the future. (Source: Journal of Pediatric Hematology Oncology)
Source: Journal of Pediatric Hematology Oncology - August 1, 2022 Category: Hematology Tags: Clinical and Laboratory Observations Source Type: research

Next-generation sequencing reveals novel variants and large deletion in FANCA gene in Polish family with Fanconi anemia
Fanconi anemia (FA) is the most common inherited bone marrow failure syndrome. However, establishing its molecular diagnosis remains challenging. Chromosomal breakage analysis is the gold standard diagnostic t... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 19, 2022 Category: Internal Medicine Authors: Anna Repczynska, Katarzyna Julga, Jolanta Skalska-Sadowska, Magdalena M. Kacprzak, Alicja Bartoszewska-Kubiak, Ewelina Lazarczyk, Damian Loska, Malgorzata Drozniewska, Kamila Czerska, Jacek Wachowiak and Olga Haus Tags: Research Source Type: research

Variable Clinical Features in a Large Family With Diamond Blackfan Anemia Caused by a Pathogenic Missense Mutation in RPS19
Discussion: This large family with DBA demonstrates the heterogeneity of phenotypes that can be seen within the same genotype. Most family members presented with steroid-responsive anemia in infancy and subtle congenital malformations, findings consistent with recent genotype-phenotype studies of RPS DBA. However, two family members were relatively unaffected, underscoring the importance of further studies to assess modifier genes, and epigenetic and/or environmental factors which may result in normal erythropoiesis despite underlying ribosome dysfunction. This large, multigenerational family highlights the need for indivi...
Source: Frontiers in Genetics - July 18, 2022 Category: Genetics & Stem Cells Source Type: research

The Clinical and Molecular Assessment of Iranian Families with Severe Congenital Neutropenia, Identification of HYOU1 and SHOC2 as Potential Novel Gene Defects
This study was conducted to genetically screen six Iranian families with SCN who have at least one affected person. In the first step, all exons and intron boundaries of ELANE and HAX1 genes were sequenced in probands. Cases with no pathogenic mutations were tested through whole-exome sequencing (WES). Analysis showed five different variants in ELANE (c.377 C>T), HAX1 (c.130_131 insA), HYOU1 (c.69 G>C and c.2744 G>A) and SHOC2 (c.4 A>G) genes in four families. We found that two out of six families had mutations in ELANE and HAX1 genes. Moreover, we found two novel mutations at the HYOU1 gene that had not previo...
Source: Iranian Journal of Allergy, Asthma and Immunology - July 13, 2022 Category: Allergy & Immunology Authors: Fatemeh Arab Nima Rezaei Forough Taheri Hamideh Kouhpeikar Elham Rayzan Mona Mirbeyk Davood Zare-Abdollahi Mohsen Ghadami Source Type: research