Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type

Faivre, Laurence; Le Merrer, Martine; Megarbane, André; Gilbert, Brigitte; Mortier, Geert; Cusin, Veronica; Munnich, Arnold; Maroteaux, Pierre; Cormier-Daire, Valérie

doi:10.1136/JMG.37.1.52

Title

Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type

Author

Faivre, Laurence

Le Merrer, Martine

Megarbane, André

Gilbert, Brigitte

Mortier, Geert

Cusin, Veronica

Munnich, Arnold

Maroteaux, Pierre

Cormier-Daire, Valérie

Abstract

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.

Language

English

Source (journal)

Journal of medical genetics. - London, 1964, currens

Publication

London : British Medical Association , 2000

ISSN

0022-2593 [Print]

1468-6244 [Online]

DOI

10.1136/JMG.37.1.52

Volume/pages