Title
A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (**MBOAT1**) in a patient with a novel brachydactylysyndactyly syndrome A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (**MBOAT1**) in a patient with a novel brachydactylysyndactyly syndrome
Author
Faculty/Department
Faculty of Medicine and Health Sciences
Publication type
article
Publication
Leiden ,
Subject
Human medicine
Source (journal)
European journal of human genetics / European Society of Human Genetics. - Leiden
Volume/pages
15(2007) :7 , p. 743-751
ISSN
1018-4813
ISI
000247436300006
Carrier
E
Target language
Dutch (dut)
Full text (Publishers DOI)
Abstract
Here, we report a patient with a novel brachydactylysyndactyly syndrome and a de novo translocation 46,XY,t(4;6)(q12;p23). We mapped the breakpoint and identified genes in the breakpoint region. One of the genes on chromosome 6, the membrane-associated O-acetyl transferase gene 1 (MBOAT1), was disrupted by the breakpoint. This gene consists of 13 exons and encodes a protein of 495 amino acids. MBOAT1 is predicted to be a transmembrane protein and belongs to the superfamily of membrane-bound O-acyltransferases. These proteins transfer organic compounds, usually fatty acids, onto hydroxyl groups of membrane-embedded targets. Identification of the transferred acyl group and the target may reveal the signaling pathways altered in this novel brachydactylysyndactyly syndrome.
E-info
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