Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: PLEC

Onset in early childhood (OMIM).

PMID: 20624679: Reported 1 patient with congenital muscular dystrophy, hypotonia and elevated CK.

PMID: 21109228: Same homozygous variant affecting isoform 1f reported in 3 families. 2 affected members of one family reported as having early onset LMGD. Authors note that PLEC is usually associated with late-onset progressive muscle dystrophy.

PMID: 28824526: 1 patient reported with early childhood onset. Variant affects isoform 1f.


Rated GREEN in CMD (PanelApp UK)
Sources: Expert Review

Created: 24 Jun 2020, 3:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 17 (MIM#613723)

Publications

• 20624679
• 21109228
• 28824526

Green List (high evidence)

Also reported in association with EB.

Created: 3 Jun 2020, 9:09 a.m. | Last Modified: 3 Jun 2020, 9:09 a.m.

Panel Version: 0.121

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epidermolysis bullosa simplex with muscular dystrophy, MIM# 226670

Green List (high evidence)

At least 3 families reported with limb-girdle muscular dystrophy
Sources: Expert Review

Created: 24 Feb 2020, 6:26 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 17 MIM#613723

Publications

• 21109228

Green List (high evidence)

All from OMIM:

- ?Epidermolysis bullosa simplex with nail dystrophy (EBSND – PTCs mutations in isoform-1a)
- Epidermolysis bullosa simplex with muscular dystrophy (EBSMD – expression of the N- and C-terminal domains of plectin remained detectable, although the expression of rod domains was absent or markedly reduced, mutations within exon 31)
- Epidermolysis bullosa simplex with pyloric atresia (EBSPA – entire protein expression severely reduced or completely lost, mutations outside of exon 31)
- Epidermolysis bullosa simplex, Ogna type (EBSO – Recurring missense (p.R2000W), occurs both in familial cases and de novo)
- Muscular dystrophy, limb-girdle, autosomal recessive 17 (LGMD – Mutations in isoform-1f)

Ogna type recurring missense also LOF (PMID: 22144912)

Created: 7 Feb 2020, 5:14 a.m. | Last Modified: 7 Feb 2020, 5:14 a.m.

Panel Version: 0.1289

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
?Epidermolysis bullosa simplex with nail dystrophy; Epidermolysis bullosa simplex with muscular dystrophy; Epidermolysis bullosa simplex with pyloric atresia; Epidermolysis bullosa simplex, Ogna type; Muscular dystrophy, limb-girdle

Publications

• PMID: 22144912

Variants in this GENE are reported as part of current diagnostic practice