Identification of two novel ATP6V0A2 mutations in an infant with cutis laxa by exome sequencing

J Dermatol Sci. 2014 Jul;75(1):66-8. doi: 10.1016/j.jdermsci.2014.04.004. Epub 2014 Apr 18.

Authors

Marco Ritelli¹, Nicola Chiarelli¹, Stefano Quinzani¹, Chiara Dordoni¹, Marina Venturini², Lidia Pezzani¹, Piergiacomo Calzavara-Pinton², Marina Colombi³

Affiliations

¹ Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Italy.
² Department of Dermatology, University Hospital Spedali Civili, Brescia, Italy.
³ Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Italy. Electronic address: marina.colombi@unibs.it.

PMID: 24815019
DOI: 10.1016/j.jdermsci.2014.04.004

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Cutis Laxa / diagnosis
Cutis Laxa / enzymology*
Cutis Laxa / genetics*
DNA Mutational Analysis*
Exome*
Female
Genetic Predisposition to Disease
Genetic Testing / methods*
Humans
Infant
Mutation*
Phenotype
Predictive Value of Tests
Proton-Translocating ATPases / genetics*
Skin / enzymology
Skin / pathology

Substances

ATP6V0A2 protein, human
Proton-Translocating ATPases