Author:

Keywords:

Science & Technology, Life Sciences & Biomedicine, Biochemistry & Molecular Biology, Genetics & Heredity, brachydactyly-syndactyly, O-acetyl transferase, MBOAT, t(4;6), MBOAT1, short stature, INDIAN HEDGEHOG, SHORT ARM, ACYLTRANSFERASE, CHROMOSOME-16, CONSTRUCTION, Acetyltransferases, Adult, Chromosomes, Human, Pair 4, Chromosomes, Human, Pair 6, Fingers, Hand Deformities, Congenital, Humans, In Situ Hybridization, Fluorescence, Male, Membrane Proteins, Syndactyly, Translocation, Genetic, 0604 Genetics, 1103 Clinical Sciences, 3105 Genetics, 3202 Clinical sciences

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.