Khan Arif O, Alam Syed K, Aldahmesh Mohammed, Rajab Mohammed, Meyer Brian
Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
Ophthalmic Genet. 2006 Sep;27(3):79-82. doi: 10.1080/13816810600862501.
Interstitial deletion of Hsa 3q involves FOXL2, the gene responsible for blepharophimosis-ptosis-telecanthus-epicanthus inversus (BPES). Thought to be due to a contiguous gene syndrome, the recognizable phenotype of 3q interstitial deletion includes BPES facies and has not been associated with other loci.
To describe a familial syndrome that resembles the interstitial deletion of 3q clinically, but does not map to the FOXL2 region.
Clinical evaluation of family members and linkage analysis.
Three affected siblings with a phenotype resembling that seen in 3q interstitial deletion were studied in addition to their clinically unaffected parents. Linkage analysis excluded FOXL2 as underlying the distinct phenotype, observed with > 99% confidence.
The relevant locus in the current family, although remote from FOXL2, is likely important to the FOXL2 functional pathway. The phenotype observed in 3q interstitial deletion may be due to severe disruption of FOXL2 rather than to a contiguous gene syndrome.
人类3号染色体长臂（Hsa 3q）的间质缺失涉及FOXL2基因，该基因与睑裂狭小-上睑下垂-内眦距增宽-反向内眦赘皮综合征（BPES）有关。3q间质缺失的可识别表型被认为是由于相邻基因综合征所致，包括BPES面容，且与其他基因座无关。
描述一种临床症状类似于3q间质缺失，但基因定位不在FOXL2区域的家族性综合征。
对家庭成员进行临床评估并进行连锁分析。
除了临床未受影响的父母外，还研究了三名有类似3q间质缺失表型的患病同胞。连锁分析排除了FOXL2是导致该独特表型的原因，置信度超过99%。
当前家族中的相关基因座虽然远离FOXL2，但可能对FOXL2功能途径很重要。3q间质缺失中观察到的表型可能是由于FOXL2的严重破坏，而不是相邻基因综合征所致。
