title: A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndrome.
abstract: Here, we report a patient with a novel brachydactyly-syndactyly 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 brachydactyly-syndactyly syndrome.
authors: Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
authors: Johannes G
authors: JG
authors: Dauwerse
authors: Bert B A
authors: BB
authors: de Vries
authors: Cokkie H
authors: CH
authors: Wouters
authors: Egbert
authors: E
authors: Bakker
authors: Gudrun
authors: G
authors: Rappold
authors: Geert R
authors: GR
authors: Mortier
authors: Martijn H
authors: MH
authors: Breuning
authors: Dorien J M
authors: DJ
authors: Peters
mesh_terms: D000123:Acetyltransferases / Q000235:genetics*; D000328:Adult; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D005385:Fingers / Q000002:abnormalities; D006228:Hand Deformities, Congenital / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008565:Membrane Proteins; D013576:Syndactyly / Q000201:enzymology / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D008565:Membrane Proteins; D000123:Acetyltransferases; C521271:MBOAT1 protein, human