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Table 1 Clinical features in 13 patients harboring bi-allelic mutations in GMPPB

From: Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

Case/Sex P1/M P2/M P3/M P4/F P5/M P6/F P7/M P8/M P9/Ma P10/Ma P11/F P12/F P13/M
Mutations p.I219T
p.R287Q
p.T153I
p.Q234*
p.K31E
p.G174S
p.T153I
p.P32L
p.P32L
p. R287Q
p.G315S
p.D27H
p.S168F
p.Q234*
p.R243W
p.P32L
p.D27H p.V330I p.D27H p.V330I p.R288Q
p.C285YfsX19
p.G220R
p.R287Q
p.R287Q
p.V330I
Diagnosis CRB MEB CMD-MR CRB CRB LGMD LGMD LGMD LGMD LGMD LGMD LGMD LGMD
Onset 18 months birth birth birth birth 6 years 13 years 20 years 28 years 24 years 7 years 25 years 34 years
Distribution of weakness Axial and upper girdle Proximal lower girdle generalized generalized generalized Mild upper and lower limb girdle Mild proximal Mild proximal Mild upper and lower limb girdle Mild upper and lower limb girdle Mild proximal Mild proximal Mild proximal
Maximal motor acquisition Independent walk with widening base Independent walk with flat foot Sitting position none none Run with mild clumsiness run run Run but loss of ambulation at 58 years run run run run
Intellectual disability + (mild) ASD + (mild) + (mild) + (severe) + (severe)
Epilepsy + + + + drug resistant + +
Brain MRI findings:
Cerebellar hypoplasia
WMC
GMC
mild
-
Microcephaly
-
+
-
-
-
Microcephaly
mild
-
Polymicrogyria/Microcephaly
mild
-
Cortical hypoplasia/Microcephay
-
+
-
Not performed Not performed Not performed Not performed Not performed Not performed Not performed
Ophthalmologic findings Strabismus
Nystagmus
Cataract
Congenital cataract Congenital cataract
Cardiorespiratory findings Respiratory distress at birth Respiratory distress at birth Respiratory distress at birth, sudden heart block at 20 months Wolff-Parkinson-White type B syndr.ome Short QT interval
Other features Facial dimorphisms Facial dimorphisms, foot deformities kyphosis Arthrogryposis Tube Feed Exercise intolerance myoglobinuria Exercise intolerance Easy fatigability Scoliosis fatigability Scoliosis fatigability Mild fatigability
  1. Abbreviations: M men, F women, WMC white matter changes, GMC grey matter changes, CRB congenital muscular dystrophy with cerebellar involvement, CMD-MR congenital muscular dystrophy with mental retardation, LGMD limb girdle muscular dystrophy;+ present; − absent; athese patients are uncle and nephew; ASD autism spectrum disorder; MEB, muscle-eye-brain disease
  2. *indicates in genetics the presence of a STOP CODON