Bone marrow failure syndrome

Definition:

Bone marrow failure syndromes are a heterogeneous group of life-threatening disorders characterized by the inability of the bone marrow to make an adequate number of mature blood cells.

References:

[1]. Abdulrahman Alsultan, et al. MYSM1 is mutated in a family with transient transfusion-dependent anemia, mild thrombocytopenia, and low NK- and B-cell counts. Blood. 2013 Nov 28;122(23):3844-5. [Content Brief]

[2]. Eléonore Toufektchan, et al. Germline mutation of MDM4, a major p53 regulator, in a familial syndrome of defective telomere maintenance. Sci Adv. 2020 Apr 10;6(15):eaay3511. [Content Brief]

[3]. Hemanth Tummala, et al. ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function. Am J Hum Genet. 2014 Feb 6;94(2):246-56. [Content Brief]

[4]. Iva Simeonova, et al. Mutant mice lacking the p53 C-terminal domain model telomere syndromes. Cell Rep. 2013 Jun 27;3(6):2046-58. [Content Brief]

[5]. Michael Kirwan, et al. Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia. Am J Hum Genet. 2012 May 4;90(5):888-92. [Content Brief]

[6]. Santhosh Dhanraj, et al. Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome. Blood. 2017 Mar 16;129(11):1557-1562. [Content Brief]

[7]. Yasuyoshi Oka, et al. Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome. Sci Adv. 2020 Dec 18;6(51):eabd7197. [Content Brief]

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