PhenoModifier-Gene Detail

Gene "FLG"

Found 6 records

Gene information

Gene symbol:

FLG

See related:

Ensembl: ENSG00000143631, Gene ID: 2312

Additive variants :

Detected

Genetic interaction partners

Confidence	Stringent (ε>0.16 or ε<-0.12)	Intermediate (-0.16≤ε≤-0.08 or 0.08≤ε≤0.16)	Lenient (\|ε\|<0.08)
Positive interactions	KATNA1 PIF1 OSGEPL1 HHATL
Negative interactions	BUD31 MLH1 RCOR1

Modifier statisitcs

Record:

Disorder:

Vriant:

Reference:

Effect type:

Expressivity(6)

Modifier effect:

Altered severity(5) ,Altered serologic parameters(1)

Details：

Variant 1:

FLG:c.9740C>A(p.Ser3247*)

Gene:

FLG

Genomic location:

chr1:152277622

dbSNP ID:

rs150597413

Target disease:

Irritant Dermatitis(DOID_2772)

Effect type:

Expressivity

Modifier effect:

Altered severity

Evidence:

P<0.05

Effect:

FLG mutations seem to be a modifier of the severity of the clinical course in ICD.

Reference:

PMID22962861

Title:

Clinical course of occupational irritant contact dermatitis of the hands in relation to filaggrin genotype status and atopy.

Species studied:

Human

Abstract:

Filaggrin loss-of-function mutations and atopy may alter the clinical course of irritant contact dermatitis (ICD).
Variant 2:

FLG:c.7339C>T(p.Arg2447*)

Gene:

FLG

Genomic location:

chr1:152280023

dbSNP ID:

rs138726443

Alias:

FLG:R2447X

Target disease:

Irritant Dermatitis(DOID_2772)

Effect type:

Expressivity

Modifier effect:

Altered severity

Evidence:

P<0.05

Effect:

FLG mutations seem to be a modifier of the severity of the clinical course in ICD.

Reference:

PMID22962861

Title:

Clinical course of occupational irritant contact dermatitis of the hands in relation to filaggrin genotype status and atopy.

Species studied:

Human

Abstract:

Filaggrin loss-of-function mutations and atopy may alter the clinical course of irritant contact dermatitis (ICD).
Variant 3:

FLG:c.7339C>T(p.Arg2447*)

Gene:

FLG

Genomic location:

chr1:152280023

dbSNP ID:

rs138726443

Alias:

FLG:R2447X

Target disease:

Pachyonychia Congenita(DOID_0050449)

Effect type:

Expressivity

Modifier effect:

Altered severity

Evidence:

Pedigree analysis

Effect:

Coinheritance of mutations in KRT16 and FLG may aggravate the PC phenotype and that FLG could serve as a genetic modifier in PC.

Reference:

PMID19785597

Title:

Increased pachyonychia congenita severity in patients with concurrent keratin and filaggrin mutations.

Species studied:

Human

Abstract:

Pachyonychia congenita (PC), a rare autosomal-dominant keratin disorder caused by mutations in keratin genes KRT6A/B, KRT16 or KRT17, is characterized by painful plantar keratoderma and hypertrophic nail dystrophy. Loss-of-function mutations in the filaggrin (FLG) gene underlie the most prevalent skin disorder of cornification, ichthyosis vulgaris (IV), which presents with generalized scaling and is also associated with atopic dermatitis. Recently, FLG mutations have been reported to increase phenotype severity of X-linked ichthyosis and alopecia areata. We report a parent-child trio in which the mother and the son have PC and the father has IV. Both the mother and the son are carriers for the KRT16 mutation p.Leu132Pro. The son, who is much more severely affected than his mother, in addition carries the heterozygous FLG mutation p.R2447X, which was inherited from the father. This observation suggests that coinheritance of mutations in KRT16 and FLG may aggravate the PC phenotype and that FLG could serve as a genetic modifier in PC.
Variant 4:

FLG:c.2282_2285del(p.Ser761fs)

Gene:

FLG

Genomic location:

chr1:152285077-152285080

dbSNP ID:

rs558269137

Target disease:

Irritant Dermatitis(DOID_2772)

Effect type:

Expressivity

Modifier effect:

Altered severity

Evidence:

P<0.05

Effect:

FLG mutations seem to be a modifier of the severity of the clinical course in ICD.

Reference:

PMID22962861

Title:

Clinical course of occupational irritant contact dermatitis of the hands in relation to filaggrin genotype status and atopy.

Species studied:

Human

Abstract:

Filaggrin loss-of-function mutations and atopy may alter the clinical course of irritant contact dermatitis (ICD).
Variant 5:

FLG:c.1501C>T(p.Arg501*)

Gene:

FLG

Genomic location:

chr1:152285861

dbSNP ID:

rs61816761

Target disease:

Irritant Dermatitis(DOID_2772)

Effect type:

Expressivity

Modifier effect:

Altered severity

Evidence:

P<0.05

Effect:

FLG mutations seem to be a modifier of the severity of the clinical course in ICD.

Reference:

PMID22962861

Title:

Clinical course of occupational irritant contact dermatitis of the hands in relation to filaggrin genotype status and atopy.

Species studied:

Human

Abstract:

Filaggrin loss-of-function mutations and atopy may alter the clinical course of irritant contact dermatitis (ICD).
Variant 6:

FLG:c.1432C>T(p.Pro478Ser)

Gene:

FLG

Genomic location:

chr1:152285930

dbSNP ID:

rs11584340

Target disease:

Atopic Dermatitis(DOID_3310)

Effect type:

Expressivity

Modifier effect:

Altered serologic parameters

Evidence:

P=0.041

Effect:

FLG P478S is a kind of disease modifier which affects serologic parameters such as EDN and ECP.

Reference:

PMID29281699

Title:

Association of FLG single nucleotide variations with clinical phenotypes of atopic dermatitis.

Species studied:

Human

Abstract:

FLG encodes a large protein called profilaggrin, which plays a key role in maintaining an effective skin barrier against the environment. In this study, we identified FLG single nucleotide variations (FLG-SNVs) and evaluated the association of FLG-SNVs with clinical phenotypes including atopic dermatitis (AD)-associated minor clinical features, presence of specific allergic sensitization, and serum parameters.