Faivre L, Le Merrer M, Megarbane A, Gilbert B, Mortier G, Cusin V, Munnich A, Maroteaux P, Cormier-Daire V
Département de Génétique, Hôpital des Enfants Malades, 149 rue de Sèvres, 75015 Paris, France.
J Med Genet. 2000 Jan;37(1):52-4. doi: 10.1136/jmg.37.1.52.
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.
马罗泰克斯型肢端中节发育不全（AMDM）是一种常染色体隐性疾病，属于肢端中节发育不全症组。AMDM的特征是严重侏儒症，伴有四肢中段和远端节段缩短。最近，通过对四个近亲家庭进行纯合性定位，已将一个AMDM基因定位于人类9号染色体的p13 - q12区域。在此，我们在五个近亲AMDM家庭中的四个家庭中显示了该疾病基因与9号染色体p13 - q12区域的连锁关系，并在第五个有两个孩子患轻度该疾病的家庭中排除了这种连锁关系。这项研究表明，遗传异质性是导致AMDM临床和放射学严重程度存在差异的原因。
