Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.

doi:10.1016/j.ajhg.2017.02.006

Article

Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.

American journal of human genetics - 6 Apr 2017

Xue Shifeng, Maluenda Jérôme, Marguet Florent, Shboul Mohammad, Quevarec Loïc, Bonnard Carine, Ng Alvin Yu Jin, Tohari Sumanty, Tan Thong Teck, Kong Mung Kei, Monaghan Kristin G, Cho Megan T, Siskind Carly E, Sampson Jacinda B, Rocha Carolina Tesi, Alkazaleh Fawaz, Gonzales Marie, Rigonnot Luc, Whalen Sandra, Gut Marta, Gut Ivo, Bucourt Martine, Venkatesh Byrappa, Laquerrière Annie, Reversade Bruno, Melki Judith

Abstract excerpt

Arthrogryposis multiplex congenita (AMC) is a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. Through genetic mapping of disease loci and whole-exome sequencing in four unrelated multiplex families presenting with severe AMC, we identified biallelic loss-of-function mutations in LGI4 (leucine-rich glioma-inactivated 4). LGI4 is a ligand...

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Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.

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