A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (**MBOAT1**) in a patient with a novel brachydactylysyndactyly syndrome

Dauwerse, Johannes G.; de Vries, Bert B.A.; Woutters, Cokkie H.; Bakker, Egbert; Rappold, Gudrun; Mortier, Geert R.; Breuning, Martijn H.; Peters, Dorien J.M.

doi:10.1038/SJ.EJHG.5201833

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

Author

Dauwerse, Johannes G.

de Vries, Bert B.A.

Woutters, Cokkie H.

Bakker, Egbert

Rappold, Gudrun

Mortier, Geert R.

Breuning, Martijn H.

Peters, Dorien J.M.

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.

Language

Dutch

Source (journal)

European journal of human genetics / European Society of Human Genetics. - Leiden

Publication

Leiden : 2007

ISSN

1018-4813

DOI

10.1038/SJ.EJHG.5201833

Volume/pages

15 :7 (2007) , p. 743-751