Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome

Am J Med Genet A. 2017 Feb;173(2):546-549. doi: 10.1002/ajmg.a.38057. Epub 2016 Nov 21.


Baraitser-Winter malformation syndrome (BWMS), Fryns-Aftimos syndrome (FA), and craniofrontofacial syndromes (CFFs) have all been recently proposed to be part of the same phenotypic spectrum of Baraitser-Winter cerebrofrontofacial syndrome (BWCFF), which is characterized by facial dysmorphism, ocular coloboma, brain malformations, and intellectual disabilities. In addition to that, the recent discovery of missense mutations in one of the two ubiquitously expressed cytoplasmic β- and γ-acting-encoding genes ACTB (7p22.1) and ACTG1 (17q25.3) in patients carrying a clinical diagnosis of BWSM, FA, or CCF has provided further evidence that these clinical conditions do indeed belong to the same entity at the molecular level. Two cases of BWCFF patients presenting with malignancies (i.e., acute lymphocytic leukemia and cutaneous lymphoma) have been published thus far. Here, we report a 21-year-old female with molecularly confirmed FA, who developed acute myeloid leukemia (AML). The present finding may indicate that actinopathies could be cancer-predisposing syndromes although small numbers and publication bias should be taken into account. © 2016 Wiley Periodicals, Inc.

Keywords: ACTB gene; ACTG1 gene; Baraitser-Winter malformation syndrome; Fryns-Aftimos syndrome; acute myeloid leukemia; craniofrontofacial syndromes.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics
  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use
  • Bone Marrow Examination
  • Brain / abnormalities
  • Comparative Genomic Hybridization
  • Craniofacial Abnormalities / complications*
  • Craniofacial Abnormalities / diagnosis
  • Craniofacial Abnormalities / genetics
  • Electrocardiography
  • Epilepsy / complications*
  • Epilepsy / diagnosis
  • Epilepsy / genetics
  • Facies
  • Female
  • Genetic Testing
  • Humans
  • Intellectual Disability / complications*
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics
  • Leukemia, Myeloid, Acute / diagnosis*
  • Leukemia, Myeloid, Acute / drug therapy
  • Leukemia, Myeloid, Acute / etiology*
  • Lissencephaly / complications*
  • Lissencephaly / diagnosis
  • Lissencephaly / genetics
  • Magnetic Resonance Imaging
  • Mutation
  • Translocation, Genetic
  • Treatment Outcome
  • Young Adult

Supplementary concepts

  • Cerebrofrontofacial Syndrome
  • Fryns-Aftimos Syndrome