LMNA

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

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A change in the LMNA gene was identified in two UDN participants. One participant is an 8-year-old male with a neuromuscular disorder (read full description). The other participant is an 8-year-old male 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: LMNA

MedlinePlus Genetics: LMNA

NCBI Gene: 4000

OMIM: 150330

UniProtKB/Swiss-Prot: P02545

Clinical Significance

Changes in the LMNA gene have been identified 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 de novo genetic change in the LMNA gene:

c.1157+23_1158-45del (inheritance pattern: autosomal dominant, position: chr1:g.156105935 _156105960del, transcript: NM_170707.3)

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 de novo genetic change in the LMNA gene:

c.937-22_937-10del (inheritance pattern: autosomal dominant, position: chr1:g.156105670_156105682del, transcript: NM_170707.3)

Clinicians and researchers believe this change is causing the participant’s symptoms.

Gene LMNA

Inheritance Pattern see gene page

Position (hg19) see gene page

Transcript see gene page

DNA Change see gene page

Protein Change see gene page

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