Ladekjaer-Mikkelsen A S, Rosenberg T, Jørgensen A L
Institute of Human Genetics, University of Aarhus, Denmark.
Hum Genet. 1996 Oct;98(4):403-8. doi: 10.1007/s004390050229.
Blue cone monochromatism (BCM) is a rare X-linked colour vision disorder characterized by the absence of both red and green cone sensitivity. Most mutations leading to BCM fall into two classes of alterations in the red and green pigment gene array at Xq28. In one class the red and green pigment genes are inactivated by deletion in the locus control region. In the second class genetic rearrangements have created an isolated pigment gene that carries an inactivating point mutation. Here we describe a clinical case of BCM caused by a new mutation where exon 4 of an isolated red pigment gene has been deleted. The finding represents the first intragenic deletion yet described among red and green pigment genes.
蓝色视锥细胞单色性（BCM）是一种罕见的X连锁色觉障碍，其特征是缺乏红锥和绿锥细胞的感光能力。导致BCM的大多数突变可分为Xq28处红和绿色素基因阵列的两类改变。一类是红和绿色素基因在基因座控制区域被缺失而失活。另一类是基因重排产生了一个携带失活点突变的孤立色素基因。本文描述了一例由新突变导致的BCM临床病例，该突变导致一个孤立的红色素基因的外显子4缺失。这一发现代表了红和绿色素基因中首次报道的基因内缺失。
