Exome sequencing identifies FATP1 mutation in Melkersson-Rosenthal syndrome

Abstract

Melkersson-Rosenthal syndrome (MRS, MIM 155900) is a rare neuromucocutaneous syndrome marked by the triad of uni- or bilateral facial paralysis, chronic swelling of the face and fissured tongue. Here, we employed exome sequencing to identify potential mutations for MRS. A Chinese Han family of MRS was identified (Fig. 1a-d, 1f). The study protocol was approved by the Institutional Review Board on Bioethics and Biosafety of BGI.

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