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muscular dystrophy, limb-girdle, autosomal recessive 27 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

muscular dystrophy, limb-girdle, autosomal recessive 27

MONDO:0030456

Also known as:LGMDR27

Overview

GeneticsAutosomal recessive · JAG2 (chr 14)

ResearchLimited published research (5 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Proximal lower limb muscle weakness and Proximal upper limb muscle weakness; and very common findings: Progressive muscle deterioration (muscular dystrophy), Neck muscle weakness, and EMG: myopathic abnormalities. 26 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	16	Achilles tendon contracture, Weakness of facial musculature, Proximal lower limb muscle weakness

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

JAG2 encodes jagged canonical Notch ligand 2 (1,238 aa). Putative Notch ligand involved in the mediation of Notch signaling. Involved in limb development Highest expression in Pituitary (56.8 TPM) and Skin Not Sun Exposed Suprapubic (51.0 TPM).

Muscular dystrophy, limb-girdle, autosomal recessive 27 is associated with mutations in the JAG2 gene on chromosome 14.

The JAG2 protein participates in NOTCH1 t(7;9)(NOTCH1:M1580_K2555) does not bind JAG2, NOTCH1 HD domain mutants bind JAG2, and NOTCH1 PEST domain mutants bind JAG2 pathways.

JAG2 is classified as a druggable target (Growth Factor category) with score 0.0.

Diagnosis

Genetic testing for JAG2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 3 very common features, 9 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for muscular dystrophy, limb-girdle, autosomal recessive 27.

5 publications have been identified in PubMed for muscular dystrophy, limb-girdle, autosomal recessive 27. Research spans Epidemiology / Natural History (40%), Gene Therapy / Novel Therapeutics (40%), and Case Report / Case Series (20%).

Recent Publications

Sakhaei A (2026). [PMID: 41721539](https://pubmed.ncbi.nlm.nih.gov/41721539/). *Cell journal*. [Case Report / Case Series]
Baine S (2026). [PMID: 41194675](https://pubmed.ncbi.nlm.nih.gov/41194675/). *Human gene therapy*. [Gene Therapy / Novel Therapeutics]
Guérémy A (2026). [PMID: 41943552](https://pubmed.ncbi.nlm.nih.gov/41943552/). *Muscle Nerve*. [Epidemiology / Natural History]
Mathur P (2025). [PMID: 39925440](https://pubmed.ncbi.nlm.nih.gov/39925440/). *Global medical genetics*. [Epidemiology / Natural History]
Anwar S (2025). [PMID: 39967852](https://pubmed.ncbi.nlm.nih.gov/39967852/). *Molecular therapy. Nucleic acids*. [Gene Therapy / Novel Therapeutics]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 12:26 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619566

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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muscular dystrophy, limb-girdle, autosomal recessive 27

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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