A novel point mutation of keratin 17 (<i>KRT17</i>) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb

Tsuda, Tatsuya; Ishikawa, Chika; Nakagawa, Noboru; Konishi, Hiroe; Tarutani, Masahito; Matsuki, Masato; Yamanishi, Kiyofumi

doi:10.1111/j.1365-2133.2008.08684.x

Cited by 5 publications

(3 citation statements)

References 8 publications

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“…Instead, the deep intronic mutation c.508 + 668C>T was identified by conventional RNA-based analysis of hair bulbs. 9 Alternatively, as suggested by Flanagan et al, 10 NGS analysis of polymerase chain reaction amplicons covering the entire gene may be helpful to detect cryptic mutations in non-coding regions. When NGS is used for the molecular diagnosis of ichthyoses, we should keep in mind such limitations and uses of the analyses.…”

Section: Discussionmentioning

confidence: 99%

“…In the present case, target‐captured analysis of coding regions and their splice sites using NGS successfully identified c.211C>T in TGM1 , but no other mutation was detected. Instead, the deep intronic mutation c.508 + 668C>T was identified by conventional RNA‐based analysis of hair bulbs . Alternatively, as suggested by Flanagan et al ., NGS analysis of polymerase chain reaction amplicons covering the entire gene may be helpful to detect cryptic mutations in non‐coding regions.…”

Section: Discussionmentioning

confidence: 99%

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Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene

Suga

Tsuda

Nagai

et al. 2015

The Journal of Dermatology

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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.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene

Suga

Tsuda

Nagai

et al. 2015

The Journal of Dermatology

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“…[1] A heterozygous missense mutation in KRT17 , K17 p. Met88 Lys, c.263T>A, was identified in Family 1 in both the proband and her daughter; this is a previously reported mutation. [8]…”

Section: Case Reportmentioning

confidence: 99%

Keratin 17 mutations in four families from India with pachyonychia congenita

et al. 2017

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Pachyonychia congenita (PC) is a rare autosomal dominant genetic skin disorder due to a mutation in any one of the five keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17. The main features are palmoplantar keratoderma, plantar pain, and nail dystrophy. Cysts of various types, follicular hyperkeratosis, oral leukokeratosis, hyperhidrosis, and natal teeth may also be present. Four unrelated Indian families presented with a clinical diagnosis of PC. This was confirmed by genetic testing; mutations in KRT17 were identified in all affected individuals.

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