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Table 1 Genes associated with dystroglycanopathies

From: Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

Gene

Protein function

Associated dystroglycanopathy according to OMIM [49]

Reference

B3GALNT2

Glycosyltransferase

Congenital muscular dystrophy-dystroglycanopathy type A 11, with brain and eye anomalies

[50]

B3GNT1

Glycosyltransferase

Congenital muscular dystrophy-dystroglycanopathy type A 13, with brain and eye anomalies

[51]

DAG1

Connects actin cytoskeleton to extracellular matrix

Congenital muscular dystrophy-dystroglycanopathy type A 9, with brain and eye anomalies

[52]

Limb-girdle muscular dystrophy-dystroglycanopathy type C 9

[53]

DOLK

Kinase

Congenital disorder of glycosylation type Im

[54]

DPM1

Transferase

Congenital disorder of glycosylation type Ie

[55]

DPM2

Transferase

Congenital disorder of glycosylation type Iu

[56]

DPM3

Transferase

Congenital disorder of glycosylation type Io

[44]

FKRP

Glycosyltransferase

Limb-girdle muscular dystrophy-dystroglycanopathy type C 5/LGMD2I

[25]

Congenital muscular dystrophy-dystroglycanopathy type A 5, with or without mental retardation

[57]

Congenital muscular dystrophy-dystroglycanopathy type B 5, with or without mental retardation

[25]

FKTN

Glycosyltransferase

Congenital muscular dystrophy-dystroglycanopathy type A 4, with brain and eye anomalies

[58]

Congenital muscular dystrophy-dystroglycanopathy type B 4, without mental retardation

[28]

Limb-girdle muscular dystrophy-dystroglycanopathy type C 4

[59]

GMPPB

Transferase

Congenital muscular dystrophy-dystroglycanopathy type A 14, with brain and eye anomalies

[30]

Congenital muscular dystrophy-dystroglycanopathy type B 14, with mental retardation

Limb-girdle muscular dystrophy-dystroglycanopathy type C 14

ISPD

Synthase

Congenital muscular dystrophy-dystroglycanopathy type A 7, with brain and eye anomalies

[47]

Limb-girdle muscular dystrophy-dystroglycanopathy type C 7

[60]

LARGE1

Glycosyltransferase

Congenital muscular dystrophy-dystroglycanopathy type B 6, with mental retardation

[61]

POMGNT1

Glycosyltransferase

Congenital muscular dystrophy-dystroglycanopathy type A 3, with brain and eye anomalies

[62]

Congenital muscular dystrophy-dystroglycanopathy type B 3, with mental retardation

[28]

Limb-girdle muscular dystrophy-dystroglycanopathy type C 3

[63]

POMGNT2

Glycosyltransferase

Congenital muscular dystrophy-dystroglycanopathy type A 8, with brain and eye anomalies

[64]

POMK

Kinase

Congenital muscular dystrophy-dystroglycanopathy type A 12, with brain and eye anomalies

[65]

Limb-girdle muscular dystrophy-dystroglycanopathy type C 12

[66]

POMT1

Glycosyltransferase

Congenital muscular dystrophy-dystroglycanopathy type A 1, with brain and eye anomalies

[67]

Congenital muscular dystrophy-dystroglycanopathy type B 1, with mental retardation

[68]

Limb-girdle muscular dystrophy-dystroglycanopathy type C 1

[69]

POMT2

Glycosyltransferase

Congenital muscular dystrophy-dystroglycanopathy type A 2, with brain and eye anomalies

[29]

Congenital muscular dystrophy-dystroglycanopathy type B 2, with mental retardation

Limb-girdle muscular dystrophy-dystroglycanopathy type C 2

TMEM5

Glycosyltransferase

Congenital muscular dystrophy-dystroglycanopathy type A 10, with brain and eye anomalies

[45]