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Faculty Detail     Name LUDWINE M MESSIAEN   Campus Address KAUL 330 Zip 0021 Phone 205-996-2915 E-mail lmessiaen@uab.edu Other websites

Faculty Appointment(s) Appointment Type Department Division Rank Primary  Genetics   Clinical Genetics Professor Center  Civitan International Research Center  Civitan International Research Center Professor Center  Comprehensive Cancer Center  Comprehensive Cancer Center Professor Center  Ctr for Glial Bio in Med  Ctr for Glial Bio in Med Professor

Graduate Biomedical Sciences Affiliations Genetics and Genomic Sciences  Integrative Genetics Graduate Program  Medical Scientist Training Program  Neuroscience Graduate Program

Biographical Sketch  Dr. Messiaen is a graduate of the Institute for Psychosocial Education in Kortrijk, Belgium. She completed her MS and PhD degrees (Molecular biology and cancer) at the University of Ghent in Flanders, Belgium, and then joined the staff of the Center of Medical Genetics at Ghent University Hospital, where she directed the molecular diagnostic laboratory from 1991 to 2003. She joined UAB in summer 2003 where she directs the Medical Genomics Laboratory in the Department of Genetics.

Society Memberships Organization Name Position Held Org Link American College of Medical Genetics  FACMG    American Society of Human Genetics  member    European Society of Human Genetics  member    Human Genome Variation Society   member

Research/Clinical Interest Title Molecular genetics testing in hereditary disorders; molecular dissection of the variant forms of NF1 Description My research is focused on the development and provision of comprehensive genetic tests for a number of rare and common genetic disorders. My laboratory currently offers molecular diagnostic testing for all forms of neurofibromatoses (NF1, NF2, schwannomatosis, spinal NF, NF-Noonan, segmental or mosaic NF), Legius syndrome, Von Hippel-Lindau disorder, PTEN—disorder, autosomal recessive polycystic kidney disease, and others. My research has a special focus on Neurofibromatosis type1 and phenotypically overlapping disorders including Legius syndrome. We are interested to fully explore the diverse spectrum of NF1 mutations. We explore NF1 genotype-phenotype correlations using several complementary approaches, including comparison of discrete phenotypic signs in unrelated patients carrying an identical NF1 mutation, characterization of cells/tissues affected in patients with mosaic or segmental NF, definition of the mutational spectrum in patients with variant forms of NF (spinal NF, Watson syndrome, NF-Noonan).

Selected Publications  Publication PUBMEDID Spencer E, Davis J, Mikhail F, Fu C, Vijzelaar R, Zackai EH, Feret H, Meyn MS, Shugar A, Bellus G, Kocsis K, Kivirikko S, Poyhonen M, Messiaen L. Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR. Am. J. Med. Genet. A 2011, 155(6): 1352-1359.  21548021  Jouhilahti EM, Peltonen S, Callens T, Jokinen E, Heape AM, Messiaen L, Peltonen J. The devlopment of cutaneous neurofibromas. Am. J. Pathol. 2011: 178(2):500-5  21281783  Messiaen L, Vogt J, Bengesser K, Fu C, Mikhail F, Serra E, Garcia-Linares C, Cooper DN, Lazaro C, Kehrer-Sawatzki H. Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1). Hum Mutat. 2010 Nov 30   21120953  Hölzel M, Huang S, Koster J, Ora I, Lakeman A, Caron H, Nijkamp W, Xie J, Callens T, Asgharzadeh S, Seeger RC, Messiaen L, Versteeg R, Bernards R. NF1 is a tumor suppressor in neuroblastoma that determines retinoic acid response and disease outcome. Cell. 2010 Jul 23;142(2):218-29.   20655465  Messiaen L, Yao S, Brems H, Callens T, Sathienkijkanchai A, Denayer E, Spencer E, Arn P, Babovic-Vuksanovic D, Bay C, Bobele G, Cohen BH, Escobar L, Eunpu D, Grebe T, Greenstein R, Hachen R, Irons M, Kronn D, Lemire E, Leppig K, Lim C, McDonald M, Narayanan V, Pearn A, Pedersen R, Powell B, Shapiro LR, Skidmore D, Tegay D, Thiese H, Zackai EH, Vijzelaar R, Taniguchi K, Ayada T, Okamoto F, Yoshimura A, Parret A, Korf B, Legius E. Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. JAMA. 2009 Nov 18;302(19):2111-8.   19920235  Brems H, Park C, Maertens O, Pemov A, Messiaen L, Upadhyaya M, Claes K, Beert E, Peeters K, Mautner V, Sloan JL, Yao L, Lee CC, Sciot R, De Smet L, Legius E, Stewart DR. Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association. Cancer Res. 2009 Sep 15;69(18):7393-401   19738042  McGillicuddy LT, Fromm JA, Hollstein PE, Kubek S, Beroukhim R, De Raedt T, Johnson BW, Williams SM, Nghiemphu P, Liau LM, Cloughesy TF, Mischel PS, Parret A, Seiler J, Moldenhauer G, Scheffzek K, Stemmer-Rachamimov AO, Sawyers CL, Brennan C, Messiaen L, Mellinghoff IK, Cichowski K. Proteasomal and genetic inactivation of the NF1 tumor suppressor in gliomagenesis. Cancer Cell. 2009 Jul 7;16(1):44-54.   19573811  De Schepper S, Maertens O, Callens T, Naeyaert JM, Lambert J, Messiaen L. Somatic mutation analysis in NF1 café au lait spots reveals two NF1 hits in the melanocytes. J Invest Dermatol. 2008 Apr;128(4):1050-3.   17914445  Brems H, Chmara M, Sahbatou M, Denayer E, Taniguchi K, Kato R, Somers R, Messiaen L, De Schepper S, Fryns JP, Cools J, Marynen P, Thomas G, Yoshimura A, Legius E. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet. 2007 Sep;39(9):1120-6.   17704776  Maertens O, De Schepper S, Vandesompele J, Brems H, Heyns I, Janssens S, Speleman F, Legius E, Messiaen L. Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1. Am J Hum Genet. 2007 Aug;81(2):243-51.   17668375  First Prev   1 2 of  2  Next Last

Keywords the neurofibromatoses, genetic testing, mosaicism, splicing, RNA-based mutation analysis

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