POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.
BACKGROUND
Muscle-eye-brain disease is a congenital muscular dystrophy with eye and brain involvement due to POMGnT1 mutations.


OBJECTIVE
To describe the clinical and molecular features of 3 Italian patients with POMGnT1 mutations.


METHODS
Case reports.


METHODS
One patient had muscle and brain abnormalities without eye involvement. Two patients had a classic muscle-eye-brain disease phenotype with different levels of clinical severity.


RESULTS
Brain magnetic resonance imaging showed cortical malformation and posterior fossa involvement. Immunofluorescence for glycosylated alpha-dystroglycan performed on muscle biopsy specimens demonstrated an absent signal in 1 patient and reduced staining in 2 patients. Molecular analysis identified 5 mutations, 2 of which are novel.


CONCLUSIONS
This article adds to what is known about the genotype-phenotype correlation and expands our awareness of the clinical spectrum associated with POMGnT1 mutations.
Biancheri
Roberta
R
Muscular and Neurodegenerative Disease Unit, Department of Neuroscience and Rehabilitation, University of Genova, Italy. roberta@biancheri.com
Bertini
Enrico
E
Falace
Antonio
A
Pedemonte
Marina
M
Rossi
Andrea
A
D'Amico
Adele
A
Scapolan
Sara
S
Bergamino
Laura
L
Petrini
Stefania
S
Cassandrini
Denise
D
Broda
Paolo
P
Manfredi
Mario
M
Zara
Federico
F
Santorelli
Filippo M
FM
Minetti
Carlo
C
Bruno
Claudio
C
D000328:Adult; D001921:Brain / Q000002:abnormalities / Q000378:metabolism / Q000503:physiopathology; D002648:Child; D017124:Conserved Sequence / Q000235:genetics; D004252:DNA Mutational Analysis; D049030:Dystroglycans / Q000378:metabolism; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D017127:Glycation End Products, Advanced / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000151:congenital* / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D010641:Phenotype; D012160:Retina / Q000378:metabolism / Q000503:physiopathology; D012689:Sequence Homology, Nucleic Acid; D013577:Syndrome
D017127:Glycation End Products, Advanced; D049030:Dystroglycans; D017351:N-Acetylglucosaminyltransferases; C443106:protein O-mannose beta-1,2-N-acetylglucosaminyltransferase