Muscular dystrophy and myopathy_Paediatric

Gene: ISPD

Green List (high evidence)

- No distinct genotype-phenotype correlation.
- Congenital MD is more commonly reported and has been reported in patients with hom PTCs, missense and chet (missense/PTCs) (OMIM).
- Limb girdle MD has also been reported for chet patients (PMID: 28688748; PMID: 30060766).

Patient fibroblasts showed impaired O-mannosylation, and transfection with wildtype protein have restored function (rescue) (PMID: 22522420).

Intragenic CNVs are commonly reported for this gene (OMIM).

Created: 29 Oct 2020, 10:16 p.m. | Last Modified: 29 Oct 2020, 10:16 p.m.

Panel Version: 0.5174

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 614643; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052

Publications

• PMID: 28688748
• 30060766
• 22522420

Green List (high evidence)

- No distinct genotype-phenotype correlation. - Congenital MD is more commonly reported and has been reported in patients with hom PTCs, missense and chet (missense/PTCs) (OMIM). - Limb girdle MD has also been reported for chet patients (PMID: 28688748; PMID: 30060766). Patient fibroblasts showed impaired O-mannosylation, and transfection with wildtype protein have restored function (rescue) (PMID: 22522420). Intragenic CNVs are commonly reported for this gene (OMIM).

Created: 29 Oct 2020, 10:39 p.m. | Last Modified: 29 Oct 2020, 10:39 p.m.

Panel Version: 0.76

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. A milder phenotype, presenting with limb-girdle muscular dystrophy has also been reported with bi-allelic variants in this gene.

Created: 29 Aug 2020, 1:21 a.m. | Last Modified: 29 Aug 2020, 1:21 a.m.

Panel Version: 0.67

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, MIM# 616052

Publications

• 22522421
• 23217329
• 23390185
• 30060766
• 28688748
• 26404900
• 30060766