FLG

On this page, you will find information about genetic changes that were identified in UDN participants. We are trying to find others with the same or similar condition.

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

Changes in this gene were identified in two UDN participants. One of these participants is a 12-year-old male with arthrogryposis multiplex congenita, low muscle tone (muscle hypotonia), and low bone density (osteopenia) (read full description). The other participant is a 48-year-old female with itchy skin inflammation (atopic dermatitis) and allergies (read full description).

Date of Report

Jul 02, 2020

Full Name

filaggrin

Location
Chromosome 1 (1q21.3)
FLG.chr1_.152280023.png

Function

The FLG gene codes for the filament aggregating protein (filaggrin) which is found in the epidermis. It is important for epidermal differentiation and protecting the skin against water loss and the entry of allergens and infectious agents (Smith et al., 2006).

Database Links

GeneCards: GC01M152274

Genetics Home Reference: FLG

NCBI Gene: 2312

OMIM: 135940

UniProtKB/Swiss-Prot: P20930

Clinical Significance

Homozygous changes in the FLG gene have been found in individuals with Ichthyosis vulgaris. Heterozygous changes in the FLG gene have been found in individuals with susceptibility to atopic dermatitis (OMIM).

Changes in the FLG gene were identified in two UDN participants. 

Participant 064, a 12-year-old male with arthrogryposis multiplex congenita, low muscle tone (muscle hypotonia), and low bone density (osteopenia) was found to carry the following genetic change in the FLG gene: c.7339C>T / p.Arg2447Ter (position: chr1: 152280023, transcript: NM_002016.1). Research is underway to determine if this change is causing the participant’s symptoms.

Participant 165, a 48-year-old female with itchy skin inflammation (atopic dermatitis) and allergies was found to carry the following genetic change in the FLG gene: c.1501C>T / p.Arg501Ter (position: chr1:152285861, transcript: NM_002016.1). The inheritance pattern for this change is autosomal dominant. Clinicians and researchers believe this change is causing the participant’s symptoms.

Gene FLG
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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