Novel ABCA12 Mutations Identified in Two Cases of Non-Bullous Congenital Ichthyosiform Erythroderma Associated with Multiple Skin Malignant Neoplasia

Natsuga, Ken; Akiyama, Masashi; Kato, Naoko; Sakai, Kaori; Sugiyama-Nakagiri, Yoriko; Nishimura, Masaharu; Hata, Hiroo; Abe, Masataka; Arita, Ken; Tsuji-Abe, Yukiko; Onozuka, Takashi; Aoyagi, Satoka; Kodama, Kazuo; Ujiie, Hideyuki; Tomita, Yoshihiko; Shimizu, Hiroshi

doi:10.1038/sj.jid.5700885

Cited by 44 publications

(48 citation statements)

References 34 publications

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“…Fig. S1B) were also reported to harbor ABCA12 mutations as the causative genetic defect Natsuga et al, 2007;Sakai et al, 2009]. To date, 10 ABCA12 mutations have been reported in eight CIE families.…”

Section: Genotype-phenotype Correlation In Abca12 Mutationsmentioning

confidence: 87%

“…In contrast, CIE and LI are both heterogeneous genetic disorders and several causative or underlying molecules including ABCA12 have been identified [Jobard et al, 2002;Lefèvre et al, 2003Lefèvre et al, , 2004Lefèvre, 2006]. Mutations in six genes have been described in non-HI ARCI to date, including TGM1 [Huber et al, 1995;Russell et al, 1995], ABCA12 [Lefèvre et al, 2003;Natsuga et al, 2007], NIPAL4 (also known as ICHTHYIN) [Lefèvre et al, 2004], CYP4F22 [Lefèvre, 2006], ALOX12B and ALOXE3 [Jobard et al, 2002]. Among them, TGM1 is thought to be the most prevalent causative gene [Fischer, 2009;Herman et al, 2009].…”

Section: Introductionmentioning

confidence: 99%

“…ABCA12 (MIM] 607800) missense mutations leading to defects in the ATP-binding cassette were reported in LI cases (type 2 LI [MIM] 601277]) [Lefèvre et al, 2003] and ABCA12 truncation mutations were reported underlying HI patients Kelsell et al, 2005]. Recently, we reported that ABCA12 missense mutations are a major cause of CIE cases in the Japanese population Natsuga et al, 2007;Sakai et al, 2009]. Thus, ABCA12 mutations lead to all three ARCI clinical phenotypes including HI, LI and CIE and ABCA12 mutations are highlighted as one of the major causes of ARCI.…”

Section: Introductionmentioning

confidence: 99%

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ABCA12 mutations and autosomal recessive congenital ichthyosis: A review of genotype/phenotype correlations and of pathogenetic conceptsa

2010

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Mutations in ABCA12 have been described in autosomal recessive congenital ichthyoses (ARCI) including harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI). HI shows the most severe phenotype. CIE and LI are clinically characterized by fine, whitish scales on a background of erythematous skin, and large, thick, dark scales over the entire body without serious background erythroderma, respectively. To date, a total of 56 ABCA12 mutations have been reported in 66 ARCI families including 48 HI, 10 LI, and 8 CIE families of African, European, Pakistani/Indian, and Japanese origin (online database: http://www.derm-hokudai.jp/ABCA12/). A total of 62.5% of reported ABCA12 mutations are expected to lead to truncated proteins. Most mutations in HI are truncation mutations and homozygous or compound heterozygous truncation mutations always results in HI phenotype. In CIE families, at least one mutation on each allele is typically a missense mutation. Combinations of missense mutations in the first ATPbinding cassette of ABCA12 underlie the LI phenotype. ABCA12 is a keratinocyte lipid transporter associated with lipid transport in lamellar granules, and loss of ABCA12 function leads to a defective lipid barrier in the stratum corneum, resulting in an ichthyotic phenotype. Recent work using mouse models confirmed ABCA12 roles in skin barrier formation.

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Section: Genotype-phenotype Correlation In Abca12 Mutationsmentioning

confidence: 87%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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ABCA12 mutations and autosomal recessive congenital ichthyosis: A review of genotype/phenotype correlations and of pathogenetic conceptsa

2010

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“…We propose that ''ARCI'' should be used to refer to harlequin ichthyosis (HI) and disorders of the LI/CIE phenotypic spectrum (Table V) exclusively. HI (Fig 2, A) was included, because functional null mutations in the ABCA12 gene cause the disease, 15,16 whereas missense mutations in the same gene may result in a milder phenotype that shows collodion membrane at birth and develops into LI 17,18 or CIE, 19,20 often with palmoplantar keratoderma (PPK). Those infants with HI who survive the perinatal period go on to express a severe and very scaling erythroderma 21 ( Fig 2, B and C ).…”

Section: Classification Of Arcimentioning

confidence: 99%

“…28 At least 22% of these cases did not exhibit mutations in any of the known ARCI genes, 27 implying that further loci must exist, such as two loci on chromosome 12p11.2-q13. 29,30 A preliminary clinicogenetic correlation based on the [17][18][19][20] and our discussions at the consensus conference is given in Tables II and III. LI is characterized by coarse and brown/dark scaling (Fig 2, E and F ). Affected individuals are often born with collodion membrane and pronounced ectropion (Fig 2, D).…”

Section: Classification Of Arcimentioning

confidence: 99%