J Med Genet 2000;37:52-54
( January )
Short report
Exclusion of chromosome 9 helps to identify mild variants of
acromesomelic dysplasia Maroteaux type
Laurence Faivrea, Martine Le Merrera, André Megarbaneb, Brigitte Gilbertc, Geert Mortierd, Veronica Cusina, Arnold Munnicha, Pierre Maroteauxa, Valérie Cormier-Dairea
a Département de Génétique, Hôpital des Enfants Malades, 149 rue de Sèvres, 75015 Paris, France, b Unité de Génétique, Université Saint Joseph, Beirut, Lebanon, c Service de Pédiatrie, Hôpital Universitaire Dupuytren, Limoges, France, d Department of Genetics, Gent University, Gent, Belgium
Correspondence to: Dr Munnich
Revised version received 18 May 1999;
Accepted for publication 5
August 1999
Acromesomelic dysplasia Maroteaux type (AMDM) is an autosomal
recessive disorder belonging to the group of acromesomelic
dysplasias. AMDM is characterised by severe dwarfism with shortening of
the middle and distal segments of the limbs. An AMDM gene has recently been mapped to human chromosome 9p13-q12 by homozygosity mapping in
four consanguineous families. Here, we show linkage of the disease gene
to chromosome 9p13-q12 in four of five consanguineous AMDM families and
its exclusion in a fifth family with two children affected with a mild
form of the disease. This study suggests that genetic heterogeneity
accounts for the variable clinical and radiological severity of AMDM.
Keywords:
acromesomelic dysplasia Maroteaux type;
acromesomelic dysplasias;
homozygosity mapping;
chromosome 9
© 2000 by J Med Genet
