A novel recurrent LIS1 splice site mutation in classic lissencephaly

Marion Philbert; Camille Maillard; Mara Cavallin; Alice Goldenberg; Cecile Masson; Nathalie Boddaert; Adrienne El Morjani; Julie Steffann; Jamel Chelly; Xavier Gerard; Nadia Bahi-Buisson

doi:10.1002/ajmg.a.38041

A novel recurrent LIS1 splice site mutation in classic lissencephaly

Am J Med Genet A. 2017 Feb;173(2):561-564. doi: 10.1002/ajmg.a.38041. Epub 2016 Nov 27.

Authors

Marion Philbert^{1

2}, Camille Maillard^{1

2}, Mara Cavallin^{1

2}, Alice Goldenberg³, Cecile Masson⁴, Nathalie Boddaert^{5

6}, Adrienne El Morjani^{1

7}, Julie Steffann^{1

7}, Jamel Chelly^{8

9

10

11

12}, Xavier Gerard^{1

13}, Nadia Bahi-Buisson^{1

2

14}

Affiliations

¹ Imagine Institute and UMR1163, Paris Descartes-Sorbonne Paris Cité University, Paris, France.
² INSERM UMR-1163, Embryology and Genetics of Congenital Malformations, Paris, France.
³ Service de Génétique, CHU de Rouen et Inserm U1079, Centre Normand de Génomique Médicale et Médecine Personnalisée, Université de Rouen, Rouen, France.
⁴ Plateforme Bioinformatique, Imagine Institute, Paris Descartes-Sorbonne Paris Cité University, Paris, France.
⁵ Department of Pediatric Radiology, Hôpital Necker Enfants Malades, AP-HP, University René Descartes, PRES Sorbonne Paris Cité, Paris, France.
⁶ INSERM U1000 and UMR 1163, Brain Imaging Laboratory "Image at Imagine" Institut Imagine, Paris, France.
⁷ Genetic Department, Hôpital Necker-Enfants Malades, Paris, France.
⁸ Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.
⁹ Centre National de la Recherche Scientifique, Illkirch, France.
¹⁰ Institut National de la Santé et de la Recherche Médicale, Illkirch, France.
¹¹ Université de Strasbourg, Strasbourg, France.
¹² Service de Diagnostic Génétique, Hôpital Civil de Strasbourg, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
¹³ INSERM UMR-1163, Laboratory of Genetics in Ophthalmology, Paris, France.
¹⁴ Pediatric Neurology, Necker Enfants Malades University Hospital, AP-HP, University René Descartes, PRES Sorbonne Paris Cité, Paris, France.

PMID: 27891766
DOI: 10.1002/ajmg.a.38041

No abstract available

Keywords: Lis1; lissencephaly; splice site mutation.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

1-Alkyl-2-acetylglycerophosphocholine Esterase / genetics*
Brain / diagnostic imaging
Brain / metabolism
Brain / pathology
Child
Child, Preschool
Exons
Gene Expression
Humans
Introns
Lissencephaly / diagnostic imaging
Lissencephaly / genetics*
Lissencephaly / pathology
Magnetic Resonance Imaging
Male
Microtubule-Associated Proteins / genetics*
Mutation*
RNA Splice Sites*

Substances

Microtubule-Associated Proteins
RNA Splice Sites
1-Alkyl-2-acetylglycerophosphocholine Esterase
PAFAH1B1 protein, human