ABCA12-deficient Congenital Ichthyosiform Erythroderma in a Boy with an Intellectual Developmental Delay

Inoue, Yukako; Yamamoto, Masaaki; Sakaguchi, Yoshiko; Jitsukawa, Orie; Hayano, Katsunori; Yamane, Masayuki; Sakamoto, Michiko; Yamanishi, Kiyofumi

doi:10.2340/00015555-2062

Cited by 2 publications

(2 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The defects in the ABCA12 protein function are supported by abnormal structures suggesting the accumulation of lipids in the granular and cornified layers, but multiple vesicular structures containing granules are seen much less frequently than in CIE cases that survived HI. [3][4][5] The expression of calprotectin may be induced in response to defects of the stratum corneum due to the ABCA12 deficiency and contribute to the phenotype of CIE in the present case.…”

mentioning

confidence: 69%

Mild case of congenital ichthyosiform erythroderma with periodic exacerbation: Novel mutations in ABCA12 and upregulation of calprotectin in the epidermis

Wada

Kusakabe

Nagai

et al. 2017

The Journal of Dermatology

View full text Add to dashboard Cite

mentioning

confidence: 69%

Mild case of congenital ichthyosiform erythroderma with periodic exacerbation: Novel mutations in ABCA12 and upregulation of calprotectin in the epidermis

Wada

Kusakabe

Nagai

et al. 2017

The Journal of Dermatology

View full text Add to dashboard Cite

“…For the molecular diagnosis of LI, coding exons, including their flanking regions, of 54 genes were examined by NGS as described previously. 8 The analysis was approved by the institutional review boards and informed consent was obtained from his parents. Genomic DNA from the parents was also examined, but his brother was not subjected to genetic analysis.…”

Section: Case Reportmentioning

confidence: 99%

Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene

Suga

Tsuda

Nagai

et al. 2015

The Journal of Dermatology

View full text Add to dashboard Cite

We report a case of a 12-year-old boy who was born as a collodion baby after which thick scales developed on his entire body surface. His younger brother showed a similar skin condition. Arcuate-shaped, large, brownish scales covered his face with ectropion. His lower legs were also covered with larger thick, brownish, plate-like scales, but other areas were covered with smaller scales. Next-generation sequencing for exons and splice sites detected a stop-gain TGM1 mutation leading to p.R71* in transglutaminase 1 (TG1). Another mutation identified was a cryptic mutation in intron 3 that activated a pseudoexon, which was detected by RNA-based analysis of hair bulbs. The deep intronic mutation caused another truncation mutation, p.N171Tfs(*) 45, in TG1. An in situ TG1 assay demonstrated that TG1 activity was totally lost in this case. Thus, we conclude that the severe phenotype of the patient developed due to those novel compound heterozygous null truncation mutations in TGM1.

show abstract

ABCA12-deficient Congenital Ichthyosiform Erythroderma in a Boy with an Intellectual Developmental Delay

Abstract: Acta Derm Venereol 95SHORT COMMUNICATION Acta Derm Venereol 2015; 95: 747-749

Cited by 2 publications

References 14 publications

Mild case of congenital ichthyosiform erythroderma with periodic exacerbation: Novel mutations in ABCA12 and upregulation of calprotectin in the epidermis

Mild case of congenital ichthyosiform erythroderma with periodic exacerbation: Novel mutations in ABCA12 and upregulation of calprotectin in the epidermis

Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene

Contact Info

Product

Resources

About