NDLI: Novel POMGnT1 mutations define broader phenotypic spectrum of muscle–eye

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An SPG3A whole gene deletion neither co-segregates with disease nor modifies phenotype in a hereditary spastic paraplegia family with a pathogenic SPG4 deletion

Acknowledgement to Referees 2006/2007

Neurogenetics : Volume 8, Issue 3, August 2007

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Novel POMGnT1 mutations define broader phenotypic spectrum of muscle–eye–brain disease

Content Provider	Springer Nature Link
Author	Hehr, Ute Uyanik, Goekhan Gross, Claudia Walter, Maggie C. Bohring, Axel Cohen, Monika Oehl Jaschkowitz, Barbara Bird, Lynne M. Shamdeen, Ghiat M. Bogdahn, Ulrich Schuierer, Gerhard Topaloglu, Haluk Aigner, Ludwig Lochmüller, Hanns Winkler, Jürgen
Copyright Year	2007
Abstract	Muscle–eye–brain disease (MEB, OMIM 253280) is an autosomal recessive disorder characterized by a distinct triad of congenital muscular dystrophy, structural eye abnormalities, and cobblestone lissencephaly. Clinically, MEB patients present with early onset muscular hypotonia, severely compromised motor development, and mental retardation. Magnetic resonance imaging reveals a lissencephaly type II with hypoplasia of the brainstem and cerebellum. MEB is associated with mutations in the gene for protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGnT1, OMIM 606822). In this paper, we report the clinical findings of nine MEB patients from eight families. Eight of the nine patients presented typical features of MEB. However, a broad phenotypic variability was observed, ranging from two patients with severe autistic features to another patient with an unusually mild phenotype, initially diagnosed as congenital muscular dystrophy. Furthermore, severe hydrocephalus was reported in two families during a previous pregnancy, emphasizing the phenotypic overlap with Walker–Warburg syndrome. In addition to three previously reported mutations, we identified six novel POMGnT1 mutations (one missense, five truncating) in the present patient cohort. Our data suggest mutational hotspots within the minimal catalytic domain at arginine residue 442 (exon 16) and in intron 17. It is interesting to note that all mutations analyzed so far result in a complete loss of enzyme activity. Therefore, we conclude that the type and position of the POMGnT1 mutations are not of predictive value for the clinical severity. This supports the notion that additional environmental and/or genetic factors may contribute to the observed broad spectrum of POMGnT1-associated phenotypes.
Starting Page	279
Ending Page	288
Page Count	10
File Format	PDF
ISSN	13646745
Journal	Neurogenetics
Volume Number	8
Issue Number	4
e-ISSN	13646753
Language	English
Publisher	Springer-Verlag
Publisher Date	2007-09-29
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Muscle–eye–brain disease Congenital muscular dystrophy Lissencephaly Polymicrogyria Epilepsy Molecular Medicine Human Genetics Neurosciences
Content Type	Text
Resource Type	Article
Subject	Genetics Cellular and Molecular Neuroscience Genetics (clinical)

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Novel POMGnT1 mutations define broader phenotypic spectrum of muscle–eye–brain disease