Human Disease Model Report: Emery-Dreifuss muscular dystrophy 3

General Information

Name

Emery-Dreifuss muscular dystrophy 3

FlyBase ID

FBhh0000291

Disease Ontology Term

autosomal recessive Emery-Dreifuss muscular dystrophy 3

Parent Disease

muscular dystrophy, Emery-Dreifuss

OMIM

EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE; EDMD3

Overview

In humans, multiple genes have been implicated in muscular dystrophy; in addition, in most cases, any specific gene is implicated in multiple forms of the disease. This report describes Emery-Dreifuss muscular dystrophy 3 (EDMD3), which is one of several forms of the disease associated with the human gene LMNA; EDMD3 exhibits autosomal recessive inheritance. Information about fly models for this and related diseases can be found in the report 'muscular dystrophy, lamin-related' (FBhh0000196).

A mutation in the fly LamC gene that corresponds to a variant implicated in EDMD3 have been characterized; see the Disease-Implicated Variants' table below.

[updated Oct. 2022 by FlyBase; FBrf0222196]

Disease Summary Information

Parent Disease Summary: muscular dystrophy, Emery-Dreifuss

Symptoms and phenotype

Specific Disease Summary: Emery-Dreifuss muscular dystrophy 3

OMIM report

[EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE; EDMD3](https://omim.org/entry/616516)

Human gene(s) implicated

[LAMIN A/C; LMNA](https://omim.org/entry/150330)

Symptoms and phenotype

Genetics

Cellular phenotype and pathology

Molecular information

External links

Gene2Function (human gene): LMNA
Gene Cards: LMNA
MedlinePlus (gene): LMNA
MARRVEL (human gene): LMNA
NCBI MedGen: Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3)
NCBI (Entrez) gene: LMNA; lamin A/C

Disease synonyms

EDMD3

Emery-Dreifuss muscular dystrophy 3, autosomal recessive

Related Diseases

Related human health report(s)

muscular dystrophy, lamin-related

Related Specific Diseases

OMIM phenotypic series

Emery-Dreifuss muscular dystrophy

Disease

Associated Human gene(s)

Drosophila model

Human transgene in Drosophila

[EDMD1](https://omim.org/entry/310300)

[EMD](https://omim.org/entry/300384)

[EDMD2](https://omim.org/entry/181350)

[LMNA](https://omim.org/entry/150330)

Emery-Dreifuss muscular dystrophy 2

[EDMD3](https://omim.org/entry/616516)

[LMNA](https://omim.org/entry/150330)

Emery-Dreifuss muscular dystrophy 3

[EDMD4](https://omim.org/entry/612998)

[SYNE1](https://omim.org/entry/608441)

[EDMD5](https://omim.org/entry/612999)

[SYNE2](https://omim.org/entry/608442)

[EDMD7](https://omim.org/entry/614302)

[TMEM43](https://omim.org/entry/612048)

[XMPMA](https://omim.org/entry/300696)

[FHL1](https://omim.org/entry/300163)

Ortholog Information

Human gene(s) in FlyBase

Hsap\LMNA

Human gene (HGNC)

Symbol / Name

LMNA; lamin A/C

D. melanogaster ortholog (based on DIOPT)

Dmel\LamC

(DIOPT, 2013-)

Dmel\Lam

(DIOPT, 2013-)

Comments on ortholog(s)

Many to many: 3 human to 2 Drosophila. The human genes LMNA, LMNB2 and LMNB1 are orthologous to fly genes Dmel\Lam and Dmel\LamC.

Other mammalian ortholog(s) used

D. melanogaster Gene Information (1)

Dmel\LamC

Gene Snapshot

Lamin C (LamC) encodes a type V intermediate filament that is essential for development. It contributes to the shape and structural integrity of the nucleus and plays roles in genome integrity and gene regulation, through contacts made with chromatin. [Date last reviewed: 2019-03-14]

Molecular function (GO)

structural constituent of cytoskeleton

Cellular component (GO)

Gene Groups / Pathways

Comments on ortholog(s)

Moderate-scoring ortholog of human genes LMNA, LMNB2 and LMNB1 (2 Drosophila to 3 human).

Orthologs and Alignments from DRSC

DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans

H. sapiens (Human)

Other Genes Used: Viral, Bacterial, Synthetic (0)

Summary of Physical Interactions (5 groups)

LamC

protein-protein

Interacting group

Assay

References

LamC

two hybrid, cosedimentation, western blot, inferred by author

(Zaremba-Czogalla et al., 2012, Schulze et al., 2009)

LamC - bocks

two hybrid

(Schulze et al., 2009)

LamC - Lam

two hybrid

(Schulze et al., 2009)

LamC - MAN1

two hybrid, anti bait coimmunoprecipitation, western blot

(Pinto et al., 2008, Wagner et al., 2006)

LamC - Sse

pull down, western blot

(Cipressa et al., 2025)

Alleles Reported to Model Human Disease (Disease Ontology) (24 alleles)

LamC

Models Based on Experimental Evidence ( 20 )

Allele

Disease

Evidence

References

LamC^ΔN.UAS

model of autosomal dominant Emery-Dreifuss muscular dystrophy 2

CEC

(Shaw et al., 2022)

LamC^R401K.hs

model of autosomal dominant Emery-Dreifuss muscular dystrophy 2

CEA

(Schulze et al., 2005)

LamC^G489V.UAS

model of myopathy

CEA

(Dialynas et al., 2012)

model of muscular dystrophy

CEA

(Shaw et al., 2022, Dialynas et al., 2015)

model of congenital muscular dystrophy due to LMNA mutation

CEA

(Chandran et al., 2019)

model of dilated cardiomyopathy 1A

CEC

(Bhide et al., 2018)

LamC^N496I.UAS

model of myopathy

CEA

(Dialynas et al., 2012)

model of muscular dystrophy

CEA

(Dialynas et al., 2015)

LamC^V528P.UAS

model of myopathy

CEA

(Dialynas et al., 2012)

model of muscular dystrophy

CEA

(Dialynas et al., 2015)

model of congenital muscular dystrophy due to LMNA mutation

CEA

(Chandran et al., 2019)

LamC^M553R.UAS

model of myopathy

CEA

(Dialynas et al., 2012)

model of muscular dystrophy

CEA

(Dialynas et al., 2015)

LamC^ΔN.UAS.cSa

model of muscular dystrophy

CEA

(Dialynas et al., 2015, Zwerger et al., 2013)

LamC^E174K.UAS

model of progeria

CEA with LamC^unspecified

(Li et al., 2016)

LamC^unspecified

model of progeria

CEA with LamC^E174K.UAS

(Li et al., 2016)

LamC^R205W.UAS

model of congenital muscular dystrophy due to LMNA mutation

CEA

(Chandran et al., 2019)

model of dilated cardiomyopathy 1A

CEC

(Shaw et al., 2022, Bhide et al., 2018)

LamC^A177P.UAS

model of congenital muscular dystrophy due to LMNA mutation

CEA

(Chandran et al., 2019)

LamC^R264W.UAS

model of congenital muscular dystrophy due to LMNA mutation

CEA

(Hinz et al., 2021)

LamC^R264Q.UAS

model of congenital muscular dystrophy due to LMNA mutation

CEA

(Hinz et al., 2021)

LamC^S37L.UAS

model of dilated cardiomyopathy 1A

CEC

(Shaw et al., 2022)

LamC^ΔK47.UAS

model of autosomal dominant Emery-Dreifuss muscular dystrophy 2

CEC

(Shaw et al., 2022)

LamC^L74R.UAS

model of dilated cardiomyopathy 1A

CEC

(Shaw et al., 2022)

LamC^R237P.UAS

model of congenital muscular dystrophy due to LMNA mutation

CEA

(Shaw et al., 2022)

LamC^K521Q.UAS

model of autosomal recessive Emery-Dreifuss muscular dystrophy 3

CEC

(Shaw et al., 2022)

LamC^R564P.UAS

model of autosomal dominant Emery-Dreifuss muscular dystrophy 2

CEA

(Walker et al., 2023)

CEC

(Shaw et al., 2022)

LamC^K521W.UAS

model of familial partial lipodystrophy type 2

CEA

(Walker et al., 2023)

Modifiers Based on Experimental Evidence ( 3 )

Allele

Disease

Interaction

References

LamC^G00158

exacerbates Huntington's disease

modeled by Hsap\HTT^{128Q.1-336.UAS}

(Kaltenbach et al., 2007)

LamC^k11904

exacerbates Huntington's disease

modeled by Hsap\HTT^{128Q.1-336.UAS}

(Kaltenbach et al., 2007)

LamC^G489V.UAS

model of congenital muscular dystrophy due to LMNA mutation

is exacerbated by AMPKα^HMC04979

(Chandran et al., 2019)

is ameliorated by AMPKα^UAS.cMa

(Chandran et al., 2019)

is ameliorated by S6k^KQ.UAS

(Chandran et al., 2019)

is exacerbated by Thor^KK108272

(Chandran et al., 2019)

is ameliorated by Thor^UAS.cMa

(Chandran et al., 2019)

is exacerbated by foxo^KK108485

(Chandran et al., 2019)

is ameliorated by foxo^UASp.GFP

(Chandran et al., 2019)

is ameliorated by srl^UAS.cRa

(Chandran et al., 2019)

is exacerbated by srl^KK100201

(Chandran et al., 2019)

model of dilated cardiomyopathy 1A

is exacerbated by Atg1^K38Q.UAS

(Bhide et al., 2018)

is ameliorated by Atg1^UAS.cSa

(Bhide et al., 2018)

is ameliorated by cnc^GD4437

(Bhide et al., 2018)

is ameliorated by cnc^KK103976

(Bhide et al., 2018)

Hsap\LMNA

Models Based on Experimental Evidence ( 2 )

Allele

Disease

Evidence

References

Hsap\LMNA^UAS.A

model of progeria

CEA

(Beard et al., 2008)

Hsap\LMNA^{progerin.UAS.A}

model of progeria

CEA

(Beard et al., 2008)

Modifiers Based on Experimental Evidence ( 0 )

Allele

Disease

Interaction

References

Alleles Representing Disease-Implicated Variants

Genetic Tools, Stocks and Reagents

Sources of Stocks

Contact lab of origin for a reagent not available from a public stock center.

Bloomington Stock Center Disease Page

Related mammalian, viral, bacterial, or synthetic transgenes

Allele

Transgene

Publicly Available Stocks

Hsap\LMNA^UAS.Tag:HA

PBac{UAS-hLMNA.HA}

y¹ w^*; PBac{UAS-hLMNA.HA}VK00033

Hsap\LMNA^{progerin.UAS.A}

P{UAS-LMNA.A.progerin}

Selected Drosophila transgenes

Allele

Transgene

Publicly Available Stocks

RNAi constructs available

Allele

Transgene

Publicly Available Stocks

y¹ v¹; P{TRiP.JF01406}attP2

LamC^NIG.10119R

P{NIG.10119R}

P{NIG.10119R}1

LamC^{RNAi.Sym.UTR.UAS}

P{UAS-LamC.UTR.RNAi}

LamC^{RNAi.Sym.tail.UAS}

P{UAS-LamC.tail.RNAi}

LamC^RNAi.UAS.cUa

P{UAS-LamC.RNAi.U}

Selected Drosophila classical alleles

Allele

Allele class

Mutagen

Publicly Available Stocks

LamC^k11904

P-element activity

y^d2 w¹¹¹⁸ P{ey-FLP.N}2 P{5xglBS-lacZ.38-1}TPN1; P{neoFRT}42D P{lacW}ttv^k11904 /CyO y⁺

LamC^G00158

P-element activity

y^* w^* P{PTT-GB}LamC^G00158

LamC^LC10

amorphic allele - molecular evidence

Delta2-3 transposase

LamC^LC58

amorphic allele - molecular evidence

Delta2-3 transposase

LamC^unspecified

References (7)

Report Sections

Open Close