Gene Information
lamin A/C [Source:HGNC Symbol;Acc:HGNC:6636]
LMNA variants are associated with 21 diseases including Charcot-Marie-Tooth disease type 2B1 and familial partial lipodystrophy, Kobberling type and 19 others, with 395 documented clinical phenotypes.
The LMNA gene is associated with 21 medical conditions, including:
Charcot-Marie-Tooth disease type 2B1
MONDO:0011569
familial partial lipodystrophy, Kobberling type
MONDO:0012072
familial isolated dilated cardiomyopathy
MONDO:0700335
familial isolated arrhythmogenic ventricular dysplasia, right dominant form
MONDO:0017403
obsolete autosomal recessive Emery-Dreifuss muscular dystrophy
MONDO:0008406
left ventricular noncompaction
MONDO:0018901
atypical Werner syndrome
MONDO:0019321
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
MONDO:0008915
LMNA-related cardiocutaneous progeria syndrome
MONDO:0018203
mandibuloacral dysplasia with type A lipodystrophy
MONDO:0009557
dilated cardiomyopathy 1A
MONDO:0007269
restrictive dermopathy
MONDO:0031213
... and 9 more diseases
Research has identified 395 phenotypic features associated with LMNA variants:
Global developmental delay
HP:0001263
Autosomal recessive inheritance
HP:0000007
Lower limb amyotrophy
HP:0007210
Late onset
HP:0003584
Elevated circulating C-reactive protein concentration
HP:0011227
Hypergonadotropic hypogonadism
HP:0000815
Short clavicles
HP:0000894
Hypotonia
HP:0001252
Lumbar hyperlordosis
HP:0002938
Hyporeflexia
HP:0001265
Osteopenia
HP:0000938
Tube feeding
HP:0033454
Gait disturbance
HP:0001288
Insulin-resistant diabetes mellitus
HP:0000831
Hypercholesterolemia
HP:0003124
ClinVar contains 10 variants associated with LMNA. Below are some notable variants:
NM_170707.4(LMNA):c.1700G>T (p.Gly567Val)
VCV004300684
NM_170707.4(LMNA):c.1549C>T (p.Gln517Ter)
PathogenicVCV004293040
Review: criteria provided, single submitter
NM_170707.4(LMNA):c.91G>C (p.Glu31Gln)
Likely pathogenicVCV004279042
Review: criteria provided, single submitter
NM_170707.4(LMNA):c.1111A>T (p.Met371Leu)
Likely pathogenicVCV004277891
Review: criteria provided, single submitter
NM_170707.4(LMNA):c.1606dup (p.Glu536fs)
Likely pathogenicVCV004277305
Review: criteria provided, single submitter
There are 974 publications about LMNA indexed in PubMed. Below are some recent papers:
Research trends and hotspots of Lamin family in cancer: a bibliometric analysis.
Liu F, Wang M, Zhu T
PMID: 41249607
•
2025 Nov 17
•
Discov Oncol
Knockdown of SUCLG2 inhibits glioblastoma proliferation and promotes apoptosis through LMNA acetylation and the mediation of H4K16la lactylation.
Li W, Zhang Q, Yin H
PMID: 41249152
•
2025 Nov 17
•
Cell Death Discov
Coincidence of Autoimmune Diabetes Mellitus and Familial Partial Lipodystrophy.
Krienke M, Schmidt HHJ, Buettner J
PMID: 41221014
•
2025 Dec
•
JCEM Case Rep
Lamin A/C regulates lipid metabolism and inflammation: insights from models of familial partial lipodystrophy 2.
Maung JN, Schill RL, Nishii A
PMID: 41217838
•
2025 Nov 11
•
J Clin Invest
Prime editing corrects the dilated cardiomyopathy causing RBM20-P633L-mutation in human cardiomyocytes.
Roman A, Zimmer A, Gotthardt M
PMID: 41210585
•
2025 Dec 9
•
Mol Ther Nucleic Acids
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Last updated: 11/20/2025