van Mourik J B, Hamel B C, Mariman E C
Department of Orthopedics, St. Joseph Ziekenhuis, Veldhoven, The Netherlands.
Am J Med Genet. 1998 May 18;77(3):234-40. doi: 10.1002/(sici)1096-8628(19980518)77:3<234::aid-ajmg9>3.3.co;2-#.
We describe a large family, including 54 affected individuals, with multiple epiphyseal dysplasia (MED) with involvement of the peripheral joints only. In this family, a mutation in the COL9A2 gene was detected. Every affected person has involvement of the knee joints. Other involved joints are the elbow, ankle, wrist, hand, and feet joints. Involvement of the shoulder or hip joints is never seen after adolescence. The height of the affected individuals is short to normal; spinal involvement is never seen. The penetrance of the gene is complete. However, the expression of the gene is highly variable.
我们描述了一个大家族，其中包括54名受累个体，患有仅累及外周关节的多发性骨骺发育不良（MED）。在这个家族中，检测到COL9A2基因发生了突变。每个受累者均累及膝关节。其他受累关节包括肘、踝、腕、手和足部关节。青春期后从未见过肩关节或髋关节受累。受累个体的身高偏矮至正常；从未见过脊柱受累情况。该基因的外显率是完全的。然而，该基因的表达高度可变。
