Gene Mapping Centre

Monogenic diseases

A total of 37 loci for monogenic diseases in humans have been firstly mapped at the GMC (see table ). Various of these traits have in the meanwhile been positionally cloned and the underlying gene defect identified (e.g. malignant hyperthermia, Nijmegen Breakage syndrome and Fanconi's anemia).

Mendelian loci mapped at the GMC

Phenotype Collaboration with Publication
Hearing loss Cremers, Nijmegen (The Netherlands) Kunst et al. 2000
Huriez syndrome Stevens, London (UK) Lee et al. 2000
Hypomagnesemia Konrad, Marburg (Germany) Weber et al. 2000
Hypotrichosis Nöthen, Bonn (Germany) Betz et al. 2000
Microcephaly Horn, Berlin (Germany) Horn et al. 2000
Nail dysplasia Hamm, Würzburg (Germany)  Krebsová et al. 2000
Nephronophthisis Hildebrandt, Freiburg (Germany) Omran et al. 2000
Syndactyly Nöthen, Bonn (Germany) Bosse et al. 2000
Dilatative cardiomyopathy Osterziel, Berlin (Germany) Jung et al. 1999
Hypomagnesemia Hildebrandt, Freiburg (Germany) Meij et al. 1999
Joubert syndrome Bayoumi (United Arab Emirates) Saar et al. 1999
Limb mammary syndrome Hamel, Nijmegen (The Netherlands)  van Bokhoven et al. 1999
Spinal muscular atrophy Hübner, Berlin (Germany) Grohmann et al. 1999
Familial periodic fever Mulley, Adelaide (Australia)  Mulley et al. 1998
Fanconi anemia Digweed, Berlin (Germany) Saar et al. 1998a
Fibronectin glomerulopathy Hildebrandt, Freiburg (Germany) Vollmer et al. 1998
Nijmegen breakage syndrome K. Sperling, Berlin (Germany) Saar et al. 1998b
Keratolytic winter erythema Ramsay, Johannesburg (South Africa) Starfield et al. 1997
Malignant hyperthermia Müller, Würzburg (Germany) Robinson et al. 1997
Papillon-Lefèvre syndrome Preis, Düsseldorf (Germany) Laaß et al. 1997
Triple-A syndrome Weber, Dresden (Germany) Weber et al. 1996
Palmoplantar keratoderma Küster, Marburg (Germany)  Hennies et al. 1995a
PPK with esophageal cancer Hagedorn, Freiburg (Germany) Hennies et al. 1995b
Congenital Ichthyosis Hennies, Berlin (Germany)  
Epiphyseal dysplasia Bayoumi (United Arab Emirates)  
Neuropathy Rautenstrauß, Erlangen (Germany) Leal et al 2000
Paragangliomas Müller, Gießen (Germany)  
Pelger anomaly K. Sperling