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Autosomal dominant aplasia and myelodysplasia(BMFS1)

MedGen UID:
814883
Concept ID:
C3808553
Disease or Syndrome
Synonym: Bone marrow failure syndrome 1
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): SRP72 (4q12)
 
Monarch Initiative: MONDO:0013851
OMIM®: 614675
Orphanet: ORPHA314399

Definition

Bone marrow failure syndrome-1 (BMFS1) is an autosomal dominant condition characterized by early-onset aplastic anemia or pancytopenia in some patients, and adult-onset myelodysplasia in others. Deafness or labyrinthitis also has been observed in affected individuals (Kirwan et al., 2012). Genetic Heterogeneity of Bone Marrow Failure Syndrome See also BMFS2 (615715), caused by mutation in the ERCC6L2 gene (615667) on chromosome 9q22; BMFS3 (617052), caused by mutation in the DNAJC21 gene (617048) on chromosome 5p13; BMFS4 (618116), caused by mutation in the MYSM1 gene (612176) on chromosome 1p32; BMFS5 (618165), caused by mutation in the TP53 gene (191170) on chromosome 17p13; BMFS6 (618849), caused by mutation in the MDM4 gene (602704) on chromosome 1q32; BMFS7 (AMEDS; 619151), caused by mutation in the ADH5 gene (103710) on chromosome 4q accompanied by a specific mutation in the ALDH2 gene (100650) on chromosome 12q24; and BMFS8 (ZHS; 620501), caused by mutation in the SLC30A7 gene (611149) on chromosome 1p21. [from OMIM]

Clinical features

From HPO
Myelodysplasia
MedGen UID:
10231
Concept ID:
C0026985
Congenital Abnormality
Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Aplastic anemia
MedGen UID:
8063
Concept ID:
C0002874
Disease or Syndrome
Aplastic anemia is a serious disorder of the bone marrow that affects between 2 and 5 persons per million per year. About 75% of these cases are classified as idiopathic (Young, 2000). In about 15% of cases a drug or infection can be identified that precipitates the aplasia, although why only some individuals are susceptible is unclear. In about 5 to 10% of patients, the aplastic anemia is constitutional--i.e., is familial or presents with one or more associated somatic abnormalities (summary by Vulliamy et al., 2002).
Pancytopenia
MedGen UID:
18281
Concept ID:
C0030312
Disease or Syndrome
An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).
Bone marrow hypocellularity
MedGen UID:
383749
Concept ID:
C1855710
Finding
A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal dominant aplasia and myelodysplasia

Recent clinical studies

Etiology

Guijarro F, López-Guerra M, Morata J, Bataller A, Paz S, Cornet-Masana JM, Banús-Mulet A, Cuesta-Casanovas L, Carbó JM, Castaño-Díez S, Jiménez-Vicente C, Cortés-Bullich A, Triguero A, Martínez-Roca A, Esteban D, Gómez-Hernando M, Álamo Moreno JR, López-Oreja I, Garrote M, Risueño RM, Tonda R, Gut I, Colomer D, Díaz-Beya M, Esteve J
Blood Adv 2023 Oct 10;7(19):5799-5811. doi: 10.1182/bloodadvances.2023009742. PMID: 37450374Free PMC Article
Calvo KR, Vinh DC, Maric I, Wang W, Noel P, Stetler-Stevenson M, Arthur DC, Raffeld M, Dutra A, Pak E, Myung K, Hsu AP, Hickstein DD, Pittaluga S, Holland SM
Haematologica 2011 Aug;96(8):1221-5. Epub 2011 Apr 20 doi: 10.3324/haematol.2011.041152. PMID: 21508125Free PMC Article
Horwitz M, Sabath DE, Smithson WA, Radich J
Am J Hematol 1996 Aug;52(4):295-304. doi: 10.1002/(SICI)1096-8652(199608)52:4<295::AID-AJH9>3.0.CO;2-N. PMID: 8701948
Smith OP, Reeves BR, Kempski HM, Evans JP
Br J Haematol 1995 Sep;91(1):150-3. doi: 10.1111/j.1365-2141.1995.tb05260.x. PMID: 7577623

Diagnosis

Guijarro F, López-Guerra M, Morata J, Bataller A, Paz S, Cornet-Masana JM, Banús-Mulet A, Cuesta-Casanovas L, Carbó JM, Castaño-Díez S, Jiménez-Vicente C, Cortés-Bullich A, Triguero A, Martínez-Roca A, Esteban D, Gómez-Hernando M, Álamo Moreno JR, López-Oreja I, Garrote M, Risueño RM, Tonda R, Gut I, Colomer D, Díaz-Beya M, Esteve J
Blood Adv 2023 Oct 10;7(19):5799-5811. doi: 10.1182/bloodadvances.2023009742. PMID: 37450374Free PMC Article
Calvo KR, Vinh DC, Maric I, Wang W, Noel P, Stetler-Stevenson M, Arthur DC, Raffeld M, Dutra A, Pak E, Myung K, Hsu AP, Hickstein DD, Pittaluga S, Holland SM
Haematologica 2011 Aug;96(8):1221-5. Epub 2011 Apr 20 doi: 10.3324/haematol.2011.041152. PMID: 21508125Free PMC Article
Owen CJ, Toze CL, Koochin A, Forrest DL, Smith CA, Stevens JM, Jackson SC, Poon MC, Sinclair GD, Leber B, Johnson PR, Macheta A, Yin JA, Barnett MJ, Lister TA, Fitzgibbon J
Blood 2008 Dec 1;112(12):4639-45. Epub 2008 Aug 21 doi: 10.1182/blood-2008-05-156745. PMID: 18723428
Horwitz M, Sabath DE, Smithson WA, Radich J
Am J Hematol 1996 Aug;52(4):295-304. doi: 10.1002/(SICI)1096-8652(199608)52:4<295::AID-AJH9>3.0.CO;2-N. PMID: 8701948

Therapy

Calvo KR, Vinh DC, Maric I, Wang W, Noel P, Stetler-Stevenson M, Arthur DC, Raffeld M, Dutra A, Pak E, Myung K, Hsu AP, Hickstein DD, Pittaluga S, Holland SM
Haematologica 2011 Aug;96(8):1221-5. Epub 2011 Apr 20 doi: 10.3324/haematol.2011.041152. PMID: 21508125Free PMC Article
Smith OP, Reeves BR, Kempski HM, Evans JP
Br J Haematol 1995 Sep;91(1):150-3. doi: 10.1111/j.1365-2141.1995.tb05260.x. PMID: 7577623

Prognosis

de la Fuente J, Dokal I
Pediatr Transplant 2007 Sep;11(6):584-94. doi: 10.1111/j.1399-3046.2007.00721.x. PMID: 17663679
Smith OP, Reeves BR, Kempski HM, Evans JP
Br J Haematol 1995 Sep;91(1):150-3. doi: 10.1111/j.1365-2141.1995.tb05260.x. PMID: 7577623

Clinical prediction guides

de la Fuente J, Dokal I
Pediatr Transplant 2007 Sep;11(6):584-94. doi: 10.1111/j.1399-3046.2007.00721.x. PMID: 17663679

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