LMNA

On this page, you will find information about genetic changes that were identified in UDN participants. 

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

A change in this gene was identified in two UDN participants. The first is a male, age 8 with a neuromuscular disorder (read full description). The other is a male, age 8 with muscle weakness, hypotonia, and elevated serum creatine kinase (read full description).

Date of Report

Jul 20, 2020

Full Name

lamin A/C

Location
Chromosome 1 (1q22)


Function

The LMNA gene encodes a member of the lamin family of protein. Lamins A and C are structural proteins that provide structure and stability to cells. Lamins A and C are supporting components of the nuclear envelope, which is the structure that surrounds the nucleus in the cells.  The nuclear envelope regulates the movement of molecules into and out of the nucleus. Lamins A and C may also play a role in regulating the activity (expression) of certain genes. (MedlinePlus Genetics).

Database Links

GeneCards: GC01P156082

MedlinePlus Genetics: LMNA

NCBI Gene: 4000

OMIM: 150330

UniProtKB/Swiss-Prot: P02545

Clinical Significance

Changes in the LMNA gene have been found in individuals with neuromuscular, cardiac and metabolic syndromes (Maggi et al. 2016).

Changes in this gene were identified in two UDN participants.

Participant 065, an 8-year-old with a neuromuscular disorder was found to have the following genetic change in the LMNA gene: c.1157+23_1158-45del. The inheritance pattern for this change is autosomal dominant. Clinicians and researchers believe this change is causing the participant’s symptoms.

Participant 169, an 8-year-old with muscle weakness, hypotonia, and elevated serum creatine kinase was found to have the following genetic change in the LMNA gene: c.937-22_937-10del (position: Chr1:156135874, transcript: NM_170707.3). The inheritance pattern for this change is autosomal dominant. Clinicians and researchers believe this change is causing the participant’s symptoms.

Gene LMNA
Inheritance Pattern see gene page
Position see gene page
Transcript see gene page
DNA Change see gene page
Protein Change see gene page
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