Molecular diagnosis of Skeletal Dysplasias
The 29 specific skeletal dysplasias for which molecular diagnosis
is offered are shown in the table below. Each skeletal dysplasia
listed is linked to the appropriate service profile. Please view
these service profiles for further information.
| Centre |
Disease specialities |
Genes screened |
| |
Multiple Epiphyseal Dysplasia ,
Pseudoachondroplasia |
COMP, COL9A1, COL9A2, COL9A3 and MATN3 |
| |
Ellis-van Creveld syndrome |
EVC |
| |
Osteogenesis Imperfecta Types I-IV
, Osteogenesis Imperfecta and
Ehlers Danlos Syndrome, further details
|
COL1A1 and COL1A2 |
|
| Achondrogenesis II, Hypochondrogenesis,
Kniest dysplasia, Spondyloepiphyseal
dysplasia, Spondyloepimetaphyseal
dysplasia, Stickler dysplasia
|
COL2A1 |
| |
Stickler dysplasia, Otospondylomegaepiphyseal
dysplasia, Marshall Syndrome,
Weissenbacher-Zweymuller Syndrome
|
COL11A1 and COL11A2 |
| |
Thanatophoric dysplasia -Types I and
II, Achondroplasia, Hypochondroplasia,
Other FGFR3 disorders, SADDAN dysplasia |
FGFR3 |
| |
Diastrophic dysplasia, Achondrogenesis
1B, Atelosteogenesis type II,
Multiple Epiphyseal Dysplasia (R),
Other DTD variant disorders |
DTDST (SLC26A2) |
| |
Spondylocostal dysostosis |
Dll3 |
| |
Cartilage-hair hypoplasia |
RMRP |
| |
Progressive pseudorheumatoid dysplasia
|
WISP-3 |
| |
Metaphyseal chondrodysplasias Schmid
type, Other SMD variants |
COL10A1 |
| |
Dyschondrosteosis Léri-Weill Langer
mesomelic dysplasia |
SHOX |
| |
Acromesomelic dysplasias - Grebe
type Hunter-Thompson type |
CDMP1 |
| |
Osteoonychodysplasia (Nail-Patella
syndrome) |
LMX1B |
| |
Cleidocranial dysplasia |
RUNX2 |
| |
Acromesomelic Dysplasia Maroteaux type |
NPR2 |
Manchester
National Genetics Reference Laboratory (Manchester)
Regional Genetics Services, St. Mary's Hospital
Hathersage Road, Manchester
M13 0JH
UK
Dr. Rob Elles.
+44 (0) 161 276 8004 (Tel)
+44 (0) 161 276 6606 (Fax)
Email: rob.elles@cmmc.nhs.uk
Newcastle
Institute of Human Genetics
International Centre for Life Central Parkway
Newcastle-upon-Tyne
NE1 3BZ UK
Prof. Judith Goodship.
Tel: +44 (0) 191 241 8997.
Fax: +44 (0) 191 241 8799.
Email: J.A.Goodship@newcastle.ac.uk
Gent
Connective Tissue Lab, Dept Medical Genetics
Gent University Hospital, De Pintelaan 185
B-9000 Gent, Belgium
Dr. Paul Coucke.
Tel: +32 (0) 9 2403634.
Fax: +32 (0) 9 2404970.
Email: paul.coucke@ugent.be
Oulu
Dept of Medical Biochemistry and Molecular Biology
University of Oulu
Aapistie 7 90220 Oulu, Finland
Drs. Minna Männikkö & Marja Majava.
Tel: +358 8 5375756
Email: minna.mannikko@oulu.fi
Email: mamajava@mail.student.oulu.fi
Paris
Unité INSERM 781, Hopital Necker-Enfants Malades
149 rue de Sèvres, 75743 Paris
Cedex 15, France.
Dr Valerie Cormier-Daire.
Email: cormier@necker.fr
Dr Laurence Legeai-Mallet
Email: mallet@necker.fr
Tel:+33 1(01) 44 49 40 00 ext 97833.
Fax:+33 1(01) 47 34 85 14.
Lausanne
Division of Molecular Pediatrics
Centre Hospitalier Universitaire Vaudois
CH-1011 Lausanne, Switzerland.
Dr. Luisa Bonafé .
Tel: +41 21 314 3483.
Fax: +41 21 314 3546.
Email: Luisa.Bonafe@chuv.ch
Website: http://www.pediatrics.ch
Mainz
Institut für Medizinische Diagnostik GmbH Center for Human Genetics,
Konrad-Adenauer-Straße 17, 55218 Ingelheim, Germany
Dr. Gabriele Wildhardt
Tel: +49 6132 781429.
Fax: +49 6132 781194.
Email: Gabriele.Wildhardt@bioscientia.de
