Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.

Autor: Russell B; Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, Ohio., Johnston JJ; National Human Genome Research Institute, National Institute of Health, Bethesda, Maryland., Biesecker LG; National Human Genome Research Institute, National Institute of Health, Bethesda, Maryland., Kramer N; Medical Genetics Institute, Cedars Sinai Medical Center, Division of Medical Genetics, Harbor-UCLA Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California., Pickart A; Section of Medical Genetics, Children's Hospital of Wisconsin, Milwaukee, Wisconsin., Rhead W; Section of Medical Genetics, Children's Hospital of Wisconsin, Milwaukee, Wisconsin., Tan WH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts., Brownstein CA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts., Kate Clarkson L; Greenwood Genetic Center, Columbia, South Carolina., Dobson A; Greenwood Genetic Center, Columbia, South Carolina., Rosenberg AZ; Laboratory of Pathology, National Cancer Institute, National Institute of Health, Bethesda, Maryland., Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia., Helm BM; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia., Harrison RE; Clinical Genetics Service, Nottingham University Hospitals Trust, Nottingham, United Kingdom., Graham JM Jr; Medical Genetics Institute, Cedars Sinai Medical Center, Division of Medical Genetics, Harbor-UCLA Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2015 Sep; Vol. 167A (9), pp. 2122-31. Date of Electronic Publication: 2015 Apr 29.
DOI: 10.1002/ajmg.a.37131
Abstrakt: Bohring-Opitz syndrome is a rare genetic condition characterized by distinctive facial features, variable microcephaly, hypertrichosis, nevus flammeus, severe myopia, unusual posture (flexion at the elbows with ulnar deviation, and flexion of the wrists and metacarpophalangeal joints), severe intellectual disability, and feeding issues. Nine patients with Bohring-Opitz syndrome have been identified as having a mutation in ASXL1. We report on eight previously unpublished patients with Bohring-Opitz syndrome caused by an apparent or confirmed de novo mutation in ASXL1. Of note, two patients developed bilateral Wilms tumors. Somatic mutations in ASXL1 are associated with myeloid malignancies, and these reports emphasize the need for Wilms tumor screening in patients with ASXL1 mutations. We discuss clinical management with a focus on their feeding issues, cyclic vomiting, respiratory infections, insomnia, and tumor predisposition. Many patients are noted to have distinctive personalities (interactive, happy, and curious) and rapid hair growth; features not previously reported.
(© 2015 Wiley Periodicals, Inc.)
Databáze: MEDLINE
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