2013
DOI: 10.1016/j.ajhg.2013.09.015
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Mutations in SERPINB7, Encoding a Member of the Serine Protease Inhibitor Superfamily, Cause Nagashima-type Palmoplantar Keratosis

Abstract: "Nagashima-type" palmoplantar keratosis (NPPK) is an autosomal recessive nonsyndromic diffuse palmoplantar keratosis characterized by well-demarcated diffuse hyperkeratosis with redness, expanding on to the dorsal surfaces of the palms and feet and the Achilles tendon area. Hyperkeratosis in NPPK is mild and nonprogressive, differentiating NPPK clinically from Mal de Meleda. We performed whole-exome and/or Sanger sequencing analyses of 13 unrelated NPPK individuals and identified biallelic putative loss-of-fun… Show more

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Cited by 111 publications
(224 citation statements)
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References 48 publications
(46 reference statements)
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“…Mutations of protease inhibitors can disrupt the skin barrier, impair keratinocyte adhesion, affect cell signaling, and cause various genetic skin conditions, 4,33 such as Netherton syndrome caused by mutations in SPINK5 28 and Nagashima-type palmoplantar keratosis (MIM 615598) caused by mutations in SERPINB7 (MIM 603357). 34,35 Our findings expand the spectrum of these conditions and explore new avenues for proteolytic pathways in skin.…”
mentioning
confidence: 70%
“…Mutations of protease inhibitors can disrupt the skin barrier, impair keratinocyte adhesion, affect cell signaling, and cause various genetic skin conditions, 4,33 such as Netherton syndrome caused by mutations in SPINK5 28 and Nagashima-type palmoplantar keratosis (MIM 615598) caused by mutations in SERPINB7 (MIM 603357). 34,35 Our findings expand the spectrum of these conditions and explore new avenues for proteolytic pathways in skin.…”
mentioning
confidence: 70%
“…The genetic mutation in Nagashima-type is SERPINB7 rather than SLURP-1. [49]. Greither's disease can present very similarly to Mal de Meleda but is mostly differentiated based on its autosomal dominant inheritance pattern as well as the fact that presentation can be later in childhood [50].…”
Section: Differential Diagnosesmentioning
confidence: 99%
“…In both cases, nucleotide changes lead to premature stop codons. These loss-of-function mutations in SERPINB6 and SERPINB7 are associated with nonsyndromic hearing loss (Sirmaci et al 2010) and Nagashima-type palmoplantar keratosis (Kubo et al 2013;Mizuno et al 2014;Yin et al 2014), respectively. As the use of whole-genome and -exome sequencing for the identification of disease-related alleles for undiagnosed and rare diseases increases, we expect that gain-of-function missense mutations also will be detected in clade B/intracellular serpin family members.…”
Section: Discussionmentioning
confidence: 99%