De Novo Occurrence of the Filaggrin Mutation p.R501X with Prevalent Mutation c.3321delA in a Japanese Family with Ichthyosis Vulgaris Complicated by Atopic Dermatitis

Hamada, Takahiro; Sandilands, Aileen; Fukuda, Shunpei; Sakaguchi, Shinji; Ohyama, Bungo; Yasumoto, Shinichiro; McLean, W.H. Irwin; Hashimoto, Takashi

doi:10.1038/sj.jid.5701164

Cited by 41 publications

(38 citation statements)

References 8 publications

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“…1). [16][17][18][19][20][21][22] Shortly after the initial report, the same research group was able to demonstrate that the two loss-of-function mutations in FLG initially found in ichthyosis vulgaris were also a major primary predisposing risk factor for atopic dermatitis. 4 A noteworthy observation in these studies, however, was that the two premature termination codon-causing mutations identified were extremely common in the general population, occurring in approximately 9% of European individuals.…”

Section: Loss-of-function Mutations In the Flg Gene Underlie Ichthyosmentioning

confidence: 94%

Filaggrin and the great epidermal barrier grief

McGrath¹

2008

Aust J Dermatology

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One of the principal functions of human skin is to form an effective mechanical barrier against the external environment. This involves the maturation and death of epidermal keratinocytes as well as the assembly of a complex network of differentially and spatially expressed proteins, glycoproteins and lipids into the keratinocyte cell membrane and surrounding extracellular space. In 2006, the key role of the granular cell layer protein filaggrin (filament-aggregating protein) in maintaining the skin barrier was determined with the identification of loss-of-function mutations in the profilaggrin gene (FLG). These mutations have been shown to be the cause of ichthyosis vulgaris and a major risk factor for the development of atopic dermatitis, asthma associated with atopic dermatitis as well as systemic allergies. Mutations in the FLG gene are extremely common, occurring in approximately 9% of individuals from European populations. The remarkable discovery of these widespread mutations is expected to have a major impact on the classification and management of many patients with ichthyosis and atopic disease. It is also hoped that the genetic discovery of FLG mutations will lead to the future development of more specific, non-immunosuppressive treatments capable of restoring effective skin barrier function and alleviating or preventing disease in susceptible individuals.

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Section: Loss-of-function Mutations In the Flg Gene Underlie Ichthyosmentioning

confidence: 94%

Filaggrin and the great epidermal barrier grief

McGrath¹

2008

Aust J Dermatology

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“…In addition, the FLG mutation studies performed in Asian countries including Japan, China, Taiwan, and Korea reported that only 2 identical mutations (R501X and E2422X) were found in both European and Asian people 43,44,45,46…”

Section: Introductionmentioning

confidence: 99%

Natural History and Risk Factors of Atopic Dermatitis in Children

Pyun

2015

Allergy Asthma Immunol Res

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Atopic dermatitis (AD) is one of the most common inflammatory allergic diseases with pruritic skin lesions particularly in infancy. It is considered to be the first step of atopic march and has variable disease courses. Many children with AD may resolve their AD symptoms with increasing age and may develop respiratory allergies such as asthma and rhinoconjunctivitis at certain ages. Natural course of AD has been supported by many cross-sectional and longitudinal studies in many countries. In general, atopic dermatitis tends to be more severe and persistent in young children, particularly if they have some risk factors including genetic factors. It appears that approximately 40%-70% of childhood AD will get resolved when they reach the age of 6-7 years. However, it is also observed that over half of the children with AD developed respiratory allergy during late childhood.

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“…Recently, mutations in the FLG have been shown to be a major risk factor for IV and atopic dermatitis(AD) [5,6]. The association of FLG mutations with IV in Northern European, Japanese, Bangladeshi, Korean, Taiwanese and Singaporean Chinese populations has been confirmed in subsequent studies [7][8][9][10][11][12][13][14][15][16][17]. To date, more than different 20 mutations have been identified in different populations, all leading to a filaggrin deficiency.…”

Section: Introductionmentioning

confidence: 62%

Filaggrin mutations are associated with ichthyosis vulgaris in the Southern Chinese population

Li¹,

Luo²,

Li³

et al. 2010

Health

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Filaggrin (FLG) plays an important role in the epidermal barrier function, which identified in patients with ichthyosis vulgaris(IV).To study the genetics of FLG mutations in Southern Chinese patients with IV. We evaluated the influence of five mutations (3321 delA, 441delA, 1249 insG, E1795X and S3296X) in a cohort of 65 IV Chinese patients and in 100 control individuals using the Sequenom® MassARRAY® system. The null allele frequency of 3321delA was 52.31%(34/65). FLG mutation 441delA was only found in one IV patients. FLG mutations 1249insG, E1795X and S3296X were not found in these patients. These findings show that the mutation 3321delA represent the most frequent genetic cause in Southern Chinese IV patients. Our findings confirm and extend the knowledge of the influence of FLG mutations in IV.

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De Novo Occurrence of the Filaggrin Mutation p.R501X with Prevalent Mutation c.3321delA in a Japanese Family with Ichthyosis Vulgaris Complicated by Atopic Dermatitis

Cited by 41 publications

References 8 publications

Filaggrin and the great epidermal barrier grief

Filaggrin and the great epidermal barrier grief

Natural History and Risk Factors of Atopic Dermatitis in Children

Filaggrin mutations are associated with ichthyosis vulgaris in the Southern Chinese population

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