Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis

Haihui Liao; Alex J. Waters; David R. Goudie; David A. Aitken; Gordon Graham; Frances J. D. Smith; Sue Lewis-Jones; W. H. Irwin McLean

doi:10.1038/sj.jid.5700971

Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis

Haihui Liao, Alex J. Waters, David R. Goudie, David A. Aitken, Gordon Graham, Frances J. D. Smith, Sue Lewis-Jones, W. H. Irwin McLean

Research output: Contribution to journal › Article › peer-review

49 Citations (Scopus)

Abstract

Mutations inactivating the STS gene cause X-linked ichthyosis (XLI), whereas null mutations in the FLG gene cause ichthyosis vulgaris. Two brothers presented with XLI. One had a typical fine scaling, and the other was much more severely affected. Both patients carried STS missense mutation T165I. Furthermore, the more severely affected patient also carried heterozygous FLG mutation R501X, which was absent from his mildly affected brother. These data suggest that disrupting epidermal differentiation via different pathways can increase phenotypic severity. Owing to the high population frequency of FLG mutations, filaggrin is a possible genetic modifier in other genodermatoses.

Original language	English
Pages (from-to)	2795-2798
Number of pages	4
Journal	Journal of Investigative Dermatology
Volume	127
Issue number	12
DOIs	https://doi.org/10.1038/sj.jid.5700971
Publication status	Published - Dec 2007

Keywords

Base Sequence
Cell Differentiation
Child
Epidermis
Family Health
Female
Humans
Ichthyosis, X-Linked
Intermediate Filament Proteins
Male
Models, Genetic
Molecular Sequence Data
Mutation
Mutation, Missense
Phenotype

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title = "Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis",

abstract = "Mutations inactivating the STS gene cause X-linked ichthyosis (XLI), whereas null mutations in the FLG gene cause ichthyosis vulgaris. Two brothers presented with XLI. One had a typical fine scaling, and the other was much more severely affected. Both patients carried STS missense mutation T165I. Furthermore, the more severely affected patient also carried heterozygous FLG mutation R501X, which was absent from his mildly affected brother. These data suggest that disrupting epidermal differentiation via different pathways can increase phenotypic severity. Owing to the high population frequency of FLG mutations, filaggrin is a possible genetic modifier in other genodermatoses.",

keywords = "Base Sequence, Cell Differentiation, Child, Epidermis, Family Health, Female, Humans, Ichthyosis, X-Linked, Intermediate Filament Proteins, Male, Models, Genetic, Molecular Sequence Data, Mutation, Mutation, Missense, Phenotype",

author = "Haihui Liao and Waters, {Alex J.} and Goudie, {David R.} and Aitken, {David A.} and Gordon Graham and Smith, {Frances J. D.} and Sue Lewis-Jones and McLean, {W. H. Irwin}",

year = "2007",

month = dec,

doi = "10.1038/sj.jid.5700971",

language = "English",

volume = "127",

pages = "2795--2798",

journal = "Journal of Investigative Dermatology",

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publisher = "Elsevier",

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TY - JOUR

T1 - Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis

AU - Liao, Haihui

AU - Waters, Alex J.

AU - Goudie, David R.

AU - Aitken, David A.

AU - Graham, Gordon

AU - Smith, Frances J. D.

AU - Lewis-Jones, Sue

AU - McLean, W. H. Irwin

PY - 2007/12

Y1 - 2007/12

N2 - Mutations inactivating the STS gene cause X-linked ichthyosis (XLI), whereas null mutations in the FLG gene cause ichthyosis vulgaris. Two brothers presented with XLI. One had a typical fine scaling, and the other was much more severely affected. Both patients carried STS missense mutation T165I. Furthermore, the more severely affected patient also carried heterozygous FLG mutation R501X, which was absent from his mildly affected brother. These data suggest that disrupting epidermal differentiation via different pathways can increase phenotypic severity. Owing to the high population frequency of FLG mutations, filaggrin is a possible genetic modifier in other genodermatoses.

AB - Mutations inactivating the STS gene cause X-linked ichthyosis (XLI), whereas null mutations in the FLG gene cause ichthyosis vulgaris. Two brothers presented with XLI. One had a typical fine scaling, and the other was much more severely affected. Both patients carried STS missense mutation T165I. Furthermore, the more severely affected patient also carried heterozygous FLG mutation R501X, which was absent from his mildly affected brother. These data suggest that disrupting epidermal differentiation via different pathways can increase phenotypic severity. Owing to the high population frequency of FLG mutations, filaggrin is a possible genetic modifier in other genodermatoses.

KW - Base Sequence

KW - Cell Differentiation

KW - Child

KW - Epidermis

KW - Family Health

KW - Female

KW - Humans

KW - Ichthyosis, X-Linked

KW - Intermediate Filament Proteins

KW - Male

KW - Models, Genetic

KW - Molecular Sequence Data

KW - Mutation

KW - Mutation, Missense

KW - Phenotype

U2 - 10.1038/sj.jid.5700971

DO - 10.1038/sj.jid.5700971

M3 - Article

C2 - 17657246

SN - 0022-202X

VL - 127

SP - 2795

EP - 2798

JO - Journal of Investigative Dermatology

JF - Journal of Investigative Dermatology

IS - 12

ER -

Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis

Abstract

Keywords

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