Japanese case of Bothnian‐type palmoplantar keratoderma with a novel missense mutation of p.Trp35Ser in extracellular loop A of aquaporin‐5

Wada, Yoshihiro; Kusakabe, Minori; Nagai, Makoto; Imai, Yasutomo; Yamanishi, Kiyofumi

doi:10.1111/1346-8138.14621

Cited by 6 publications

(4 citation statements)

References 5 publications

(9 reference statements)

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“…Pathogenicity prediction algorithms show conflicting results: BayesDel_addAF, DEOGEN2, FATHMM-MKL, LIST-S2, M-CAP, MVP, MutationTaster, and SIFT estimate this variant as pathogenic, while DANN, EIGEN, MutationAssessor, and PrimateAI as likely benign. There is one described variant in the same codon of the AQP5 gene: c.104G>C (p.(Trp35Ser)) in a patient with keratoderma [ 6 ].…”

Section: Resultsmentioning

confidence: 99%

“…Blaydon et al described five different missense AQP5 variants in twelve families with palmoplantar keratoderma from Great Britain, Scotland, and Sweden in 2013 [ 11 ], including Swedish families from the coasts of the Bothnian bay of the Baltic Sea, in which this PPK type was first described [ 12 ]. Later, mutations in the AQP5 gene were described as a cause of PPK in families from other countries [ 6 , 13 ].…”

Section: Resultsmentioning

confidence: 99%

“…Mild erythema with small scales was detected on the dorsal regions of his soles, around the toenails and along the great toe tendons. Hyperkeratotic lesions shaped as granular papules were located on the sides of his feet, diminishing with distance from the soles [ 6 ]. The severe clinical findings in affected PPK2 family members could possibly be a combined effect of variants AQP5 (NM_001651.4): c.103T>G (p.(Trp35Gly)) and FLG (NM_002016.2): c.1501C>T (p.(Arg501Ter)), which co-segregate with hyperkeratosis in the family.…”

Section: Discussionmentioning

confidence: 99%

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Palmoplantar Keratoderma: A Molecular Genetic Analysis of Family Cases

Щагина

Федотов

Маркова

et al. 2022

IJMS

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Palmoplantar keratoderma is a clinically polymorphic disorder with a heterogeneous etiology characterized by marked hyperkeratotic lesions on the surface of palms and soles. Hereditary forms of palmoplantar keratoderma usually have autosomal dominant inheritance and are caused by mutations in dozens of genes, most of which belong to the keratin family. We carried out clinical and molecular genetic analysis of the affected and healthy members of four families with autosomal dominant palmoplantar keratoderma. In three out of four family cases of autosomal dominant palmoplantar keratoderma, the following molecular genetic causes were established: in two families—previously non-described missense mutations in the AQP5 gene (NM_001651.4): c.369C>G (p.(Asn123Lys)) and c.103T>G (p.(Trp35Gly)); in one family—a described splice site mutation in the KRT9 gene (NM_000226.4): c.31T>G. In one family, the possible cause of palmoplantar keratoderma was detected—a variant in the KRT1 gene (NM_006121.4): c.931G>A (p.(Glu311Lys)).

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Palmoplantar Keratoderma: A Molecular Genetic Analysis of Family Cases

Щагина

Федотов

Маркова

et al. 2022

IJMS

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“…We showed that palmoplantar swelling might start from birth (patients III-2, IV-2 and IV-5) or occur during the first year of life (patient IV-7). White spongy swelling of the stratum corneum or “hand-in-the-bucket sign” is also induced after 1 to 15 min of water immersion [ 3 , 12 , 13 , 14 ] or after excessive sweating. While swelling was significantly evident after 6 min of immersion for the father, they occurred earlier, after 3 min of immersion, in the children.…”

Section: Discussionmentioning

confidence: 99%

Bothnian Palmoplantar Keratoderma: Further Delineation of the Associated Phenotype

Fertitta

Charbit‐Henrion

Leclerc‐Mercier

et al. 2022

Genes

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Bothnian palmoplantar keratoderma (PPKB, MIM600231) is an autosomal dominant form of diffuse non-epidermolytic PPK characterized by spontaneous yellowish-white PPK associated with a spongy appearance after water-immersion. It is due to AQP5 heterozygous mutations. We report four patients carrying a novel AQP5 heterozygous mutation (c.125T>A; p.(Ile42Asn)), and belonging to the same French family. Early palmoplantar swelling (before one year of age), pruritus and hyperhidrosis were constant. The PPK was finally characterized as transgrediens, non-progrediens, diffuse PPK with a clear delineation between normal and affected skin. The cutaneous modifications at water-immersion test, “hand-in-the-bucket sign”, were significantly evident after 3 to 6 min of immersion in the children and father, respectively. AQP5 protein is expressed in eccrine sweat glands (ESG), salivary and airway submucosal glands. In PPKB, gain of function mutations seem to widen the channel diameter of ESG and increase water movement. Thus, swelling seems to be induced by hypotonicity with water entrance into cells, while hyperhidrosis is the result of an increased cytosolic calcium concentration.

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Aquaporins in Skin

Yin

Ren

2023

Advances in Experimental Medicine and Biology

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Japanese case of Bothnian‐type palmoplantar keratoderma with a novel missense mutation of p.Trp35Ser in extracellular loop A of aquaporin‐5

Cited by 6 publications

References 5 publications

Palmoplantar Keratoderma: A Molecular Genetic Analysis of Family Cases

Palmoplantar Keratoderma: A Molecular Genetic Analysis of Family Cases

Bothnian Palmoplantar Keratoderma: Further Delineation of the Associated Phenotype

Aquaporins in Skin

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