Projects
Name
Involvement of WNT.A gene in hypo- anhidrotic ectodermal dysplasia
University
France (ANEMF) - University of Toulouse, Toulouse
Domain
Genetics
Departement
GR2DE, INSERM U1043, CHU de Toulouse, Hopital Purpan, Pavillon Ch Lefebvre
Head
Prs CALVAS/MALECAZE
Tutor
Pr P. CALVAS
Languages
French
Duration
4 weeks
Availability
Cities/Months Jan Feb Mar Apr May Jun Jul Augt Sep Oct Nov Dec
Yes Yes Yes Yes Yes Yes No No Yes Yes Yes Yes
Type of Research Project
- Clinical Project with Laboratory work
What is the background of the project?
Aim of the project:

Ectodermal dysplasia (ED) is a clinically and genetically heterogeneous condition
characterized by abnormal development of two or more of the following ectodermalderived structures: hair, teeth, nails, and sweat glands Anhidrotic or hypohidrotic
ectodermal dysplasia (HED/EDA), the most common phenotype of ED, is
characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal
or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or
hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes,
airways, and mucous membranes presumably due to the defective development of
several exocrine glands. HED/ EDA can be associated with dysmorphic features and
occasionally with absent nipples. The most frequent form of HED/EDA (MIM]
305100) results from mutations in the EDA1 gene, located on chromosome Xq12?
q13.1 and encoding ectodysplasin (MIM] 300451), a member of the tumor necrosis
factor (TNF) family. Mutations in the EDA receptor encoding gene EDAR, located on
chromosome 2q11?q13 (MIM] 604095), or in the EDAR-Associated Death Domain
encoding gene EDARADD, located on chromosome 1q42?q43 (MIM] 606603), have
been shown to cause autosomal recessive and dominant HED forms, respectively.
These three forms are clinically indistinguishable, probably because they alter a
single signal transduction pathway. Indeed, the binding of ectodysplasin to its
receptor EDAR allows the recruitment of EDARADD as an adapter to activate the NFkB signaling pathway. This pathway is necessary for initiation, formation and
differentiation of skin appendages. the WNT10A gene (chromosome 2q35, MIM]
INTERNATIONAL FEDERATION
OF MEDICAL STUDENTS
What is the aim of the project?
What techniques and methods are used?
What is the role of the student?
What are the tasks expected to be accomplished by the student?
Will there be any theoretical teaching provided (preliminary readings, lectures, courses, seminars etc)
What is expected from the student at the end of the research exchange? What will be the general outcome of the student?
What skills are required of the student? Is there any special knowledge or a certain level of studies needed?
Basic knowledge in human molecular genetics and embryology

preliminary readings on the topic :
Cluzeau C, Hadj-Rabia S, Jambou M, Mansour S, Guigue P, Masmoudi S, Bal E, Chassaing N, Vincent MC, Viot G,
Clauss F, Manière MC, Toupenay S, Le Merrer M, Lyonnet S, Cormier-Daire V, Amiel J, Faivre L, de Prost Y,
Munnich A, Bonnefont JP, Bodemer C, Smahi A. Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account
for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Hum Mutat. 2011 Jan;32(1):70-2

Clauss F, Chassaing N, Smahi A, Vincent MC, Calvas P, Molla M, Lesot H, Alembik Y, Hadj-Rabia S, Bodemer C,
Manière MC, Schmittbuhl M. X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental
phenotypic findings. Clin Genet. 2010 Sep;78(3):257-66.

(complete list of preliminary readings will be sent to the incoming student before arrival)
Are there any legal limitations in the student’s involvement
No
Hours
6
Type of students accepted
This project accepts:
- Medical students
- Pre-Medical students from the American-British system
Articles
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