학술논문
AQP5, a second gene at play with CFTR in aquagenic palmoplantar keratoderma.
Document Type
Article
Author
Sperelakis‐Beedham, Brian; Lopez, Maureen; Bourrat, Emmanuelle; Gaitch, Natacha; Houriez, Florence; Martinez, Brigitte; Fajac, Isabelle; Burgel, Pierre‐Régis; Hickman, Geoffroy; Audrézet, Marie‐Pierre; Gonde, Delphine; Cabet, Faiza; Gerfaud‐Valentin, Mathieu; Nove‐Josserand, Raphaele; Raynal, Caroline; Pagin, Adrien; Reboul, Marie‐Pierre; de Becdelièvre, Alix; Bienvenu, Thierry; Callebaut, Isabelle
Source
Subject
*PALMOPLANTAR keratoderma
*TESTICULAR cancer
*CYSTIC fibrosis transmembrane conductance regulator
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Language
ISSN
0926-9959
Abstract
Massive parallel sequencing of the I AQP5 i coding regions led to identify an I AQP5 i variant in six patients (3.0%), of whom two also carried a heterozygous I CFTR i variant (Table 1). Aquagenic palmoplantar keratoderma (APPK), also known as Aquagenic Wrinkling, is a rare skin disease characterized by transient skin wrinkling with oedema and whitish papules mostly on the palms, rarely on the soles, after water immersion.[1] It is frequently observed in patients with cystic fibrosis (CF)[2] but also occurs sporadically, often in young women. All patients gave their written informed consent to the genetic studies and had an in-depth I CFTR i gene study, leading to unmask CF in one and a CFTR-RD in 13. [Extracted from the article]