Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
Eur J Hum Genet. 2012 Sep;20(9):986-9. doi: 10.1038/ejhg.2012.43. Epub 2012 Mar 7.
Cat eye syndrome (CES) is caused by a gain of the proximal part of chromosome 22. Usually, a supernumerary marker chromosome is present, containing two extra copies of the chromosome 22q11.1q11.21 region. More sporadically, the gain is present intrachromosomally. The critical region for CES is currently estimated to be about 2.1 Mb and to contain at least 14 RefSeq genes. Gain of this region may cause ocular coloboma, preauricular, anorectal, urogenital and congenital heart malformations. We describe a family in which a 600 kb intrachromosomal triplication is present in at least three generations. The copy number alteration was detected using MLPA and further characterized with interphase and metaphase FISH and SNP-array. The amplified fragment is located in the distal part of the CES region. The family members show anal atresia and preauricular tags or pits, matching part of the phenotype of this syndrome. This finding suggests that amplification of the genes CECR2, SLC25A18 and ATP6V1E1, mapping within the critical region for CES, may be responsible for anorectal, renal and preauricular anomalies in patients with CES.
猫眼综合征（CES）是由 22 号染色体近端部分获得引起的。通常情况下，会出现一个额外的标记染色体，其中包含两条 22q11.1q11.21 区域的额外拷贝。更偶尔的情况下，这种获得是在染色体内部发生的。CES 的关键区域目前估计约为 2.1Mb，包含至少 14 个 RefSeq 基因。该区域的获得可能导致眼部眶距过宽、耳前赘生物、肛门直肠、泌尿生殖和先天性心脏畸形。我们描述了一个家系，该家系中至少三代存在 600kb 的染色体内部三重复。使用 MLPA 检测到拷贝数改变，并通过间期和中期 FISH 和 SNP 芯片进一步进行了特征分析。扩增片段位于 CES 区域的远端。该家系成员存在肛门闭锁和耳前赘生物或凹陷，符合该综合征的部分表型。这一发现表明，位于 CES 关键区域内的 CECR2、SLC25A18 和 ATP6V1E1 基因的扩增可能导致 CES 患者的肛门直肠、肾脏和耳前异常。
