The University of Southampton
University of Southampton Institutional Repository

Darier disease, multiple bone cysts, and aniridia due to double de novo heterozygous mutations in ATP2A2 and PAX6

Darier disease, multiple bone cysts, and aniridia due to double de novo heterozygous mutations in ATP2A2 and PAX6
Darier disease, multiple bone cysts, and aniridia due to double de novo heterozygous mutations in ATP2A2 and PAX6
Darier disease (DD) is an autosomal dominant genodermatosis caused by mutations in ATP2A2 and characterized by multiple warty papules coalescing in seborrheic areas and specific histological skin changes. Rare patients are described with variable bone involvement, but this association has never been sufficiently emphasized. Aniridia is a developmental disorder of the eye due to heterozygous mutations in PAX6. DD and aniridia are Mendelian traits mapping on independent loci and have never been reported in association. Here, we describe a 14-year-old girl showing the unique combination of DD, multiple bone cysts, and bilateral aniridia. Molecular investigations demonstrated that such a complex phenotype is due to double de novo heterozygous mutations in ATP2A2 and PAX6. Review of the literature indicates that, in DD, bone cysts are true developmental abnormalities of the skeleton. This finding suggests a role for ATP2A2 in bone biology. More systematic studies are expected in order to estimate the true prevalence of bone cysts in DD and the relationship between skeletal changes and ATP2A2 perturbation
darier-white disease, double heterozygosity, keratosis follicularis, pleiotropy, SERCA2
1552-4825
1768-1772
Castori, Marco
756ba17e-e599-4c76-979e-fcc20ce6d8ad
Barboni, Luanna
3dd5e5d3-0efb-425c-83c5-2e7bc510b95a
Duncan, Phillipa J.
e9c83980-5ac5-49c6-b26b-ae40e5cb3ad5
Paradisi, Mauro
eb74300d-45df-42e8-86af-26ccadc6915c
Laino, Luigi
f33c2fed-e8f4-414b-a208-8e42c857800c
Bernardo, Carmelilia
ace98571-9df6-47f1-b91c-fa3c44885ae0
Robinson, David O.
9db1b26b-6c2b-4ac5-879e-20f8a2dc30ec
Grammatico, Paolo
7f3487be-7909-4b06-a539-73a64f880c9d
Castori, Marco
756ba17e-e599-4c76-979e-fcc20ce6d8ad
Barboni, Luanna
3dd5e5d3-0efb-425c-83c5-2e7bc510b95a
Duncan, Phillipa J.
e9c83980-5ac5-49c6-b26b-ae40e5cb3ad5
Paradisi, Mauro
eb74300d-45df-42e8-86af-26ccadc6915c
Laino, Luigi
f33c2fed-e8f4-414b-a208-8e42c857800c
Bernardo, Carmelilia
ace98571-9df6-47f1-b91c-fa3c44885ae0
Robinson, David O.
9db1b26b-6c2b-4ac5-879e-20f8a2dc30ec
Grammatico, Paolo
7f3487be-7909-4b06-a539-73a64f880c9d

Castori, Marco, Barboni, Luanna, Duncan, Phillipa J., Paradisi, Mauro, Laino, Luigi, Bernardo, Carmelilia, Robinson, David O. and Grammatico, Paolo (2009) Darier disease, multiple bone cysts, and aniridia due to double de novo heterozygous mutations in ATP2A2 and PAX6. American Journal of Medical Genetics: Part A, 149A (8), 1768-1772. (doi:10.1002/ajmg.a.32960).

Record type: Article

Abstract

Darier disease (DD) is an autosomal dominant genodermatosis caused by mutations in ATP2A2 and characterized by multiple warty papules coalescing in seborrheic areas and specific histological skin changes. Rare patients are described with variable bone involvement, but this association has never been sufficiently emphasized. Aniridia is a developmental disorder of the eye due to heterozygous mutations in PAX6. DD and aniridia are Mendelian traits mapping on independent loci and have never been reported in association. Here, we describe a 14-year-old girl showing the unique combination of DD, multiple bone cysts, and bilateral aniridia. Molecular investigations demonstrated that such a complex phenotype is due to double de novo heterozygous mutations in ATP2A2 and PAX6. Review of the literature indicates that, in DD, bone cysts are true developmental abnormalities of the skeleton. This finding suggests a role for ATP2A2 in bone biology. More systematic studies are expected in order to estimate the true prevalence of bone cysts in DD and the relationship between skeletal changes and ATP2A2 perturbation

Full text not available from this repository.

More information

Published date: August 2009
Keywords: darier-white disease, double heterozygosity, keratosis follicularis, pleiotropy, SERCA2

Identifiers

Local EPrints ID: 69519
URI: https://eprints.soton.ac.uk/id/eprint/69519
ISSN: 1552-4825
PURE UUID: 633d5d77-e634-419e-bbc5-73ab1c3867cb

Catalogue record

Date deposited: 18 Nov 2009
Last modified: 19 Jul 2019 23:47

Export record

Altmetrics

Contributors

Author: Marco Castori
Author: Luanna Barboni
Author: Phillipa J. Duncan
Author: Mauro Paradisi
Author: Luigi Laino
Author: Carmelilia Bernardo
Author: David O. Robinson
Author: Paolo Grammatico

University divisions

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of https://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×