Bockenheimer disease is associated with a TEK variant.

Autor:	Sudduth CL; Department of Plastic and Oral Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA., Konczyk DJ; Department of Plastic and Oral Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA., Smits PJ; Department of Plastic and Oral Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA., Eng W; Division of Hematology and Oncology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA., Al-Ibraheemi A; Department of Pathology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA., Upton J; Department of Plastic Surgery, Boston Shriners Hospital, Boston, Massachusetts 02114, USA., Greene AK; Department of Plastic and Oral Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA.
Jazyk:	angličtina
Zdroj:	Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2021 Dec 09; Vol. 7 (6). Date of Electronic Publication: 2021 Dec 09 (Print Publication: 2021).
DOI:	10.1101/mcs.a006119
Abstrakt:	Bockenheimer disease is a venous malformation involving all tissues of an extremity. Patients have significant morbidity, and treatment is palliative. The purpose of this study was to identify the cause of Bockenheimer disease to develop pharmacotherapy for the condition. Paraffin-embedded tissue from nine individuals with Bockenheimer disease obtained during a clinically indicated operation underwent DNA extraction. Droplet digital polymerase chain reaction (ddPCR) was used to screen for variants most commonly associated with sporadic venous malformations ( TEK [NM_000459.5:c.2740C > T; p.Leu914Phe], PIK3CA [NM_006218.4:c.1624G > A; p.Glu542Lys and NM_006218.4:c.3140A > G; p.His1047Arg]). ddPCR detected a TEK L914F variant in all nine patients (variant allele fraction 2%-13%). PIK3CA E542K and H1047R variants were not identified in the specimens. Sanger sequencing and restriction enzyme digestion confirmed variants identified by ddPCR. A pathogenic variant in the endothelial cell tyrosine kinase receptor TEK is associated with Bockenheimer disease. Pharmacotherapy targeting the TEK signaling pathway might benefit patients with the condition. (© 2021 Sudduth et al.; Published by Cold Spring Harbor Laboratory Press.)
Databáze:	MEDLINE
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