Journal article

Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome

Marie Shaw, Tzu Ying Yap, Lyndal Henden, Melanie Bahlo, Alison Gardner, Vera M Kalscheuer, Eric Haan, Louise Christie, Anna Hackett, Jozef Gecz



Mutations in the L1 Cell Adhesion Molecule (L1CAM) gene (MIM#308840) cause a variety of X-linked recessive neurological disorders collectively called L1 syndrome. Using massively parallel sequencing (MPS) of the X-chromosome exome, we identified a novel missense variant in L1CAM in two Caucasian families with mild-moderate intellectual disability without obvious L1 syndrome features. These families were not known to be related. SNP data extracted from MPS identified a 5.6 cM tract of identity by descent (IBD), encompassing the L1CAM gene, between the DNA of the two probands. This cannot be explained by chance alone and strongly implies that the two families are related. It also suggests that..

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University of Melbourne Researchers


Awarded by Australian Government National Health and Medical Research Council of Australia

Awarded by Australian Research Council

Awarded by Project GENCODYS - European Union Framework Programme

Funding Acknowledgements

We thank the members of the families studied for their participation, and L. Hobson, R. Carroll for laboratory assistance. This work was supported by the Australian Government National Health and Medical Research Council of Australia grants APP628952, APP1041920, and APP1008077 to J.G; and APP1054618 to M.B; the Independent Research Institute Infrastructure Support Scheme and the Victorian State Government Operational Infrastructure Program (to M.B and L.H); The Australian Research Council (FT100100764 to M.B. and an Australian Postgraduate Award to L.H.); the Project GENCODYS (241995) funded by the European Union Framework Programme to V.K.