Kellermayer Richard
Department of Medical Genetics and Child Development, University of Pécs, Hungary.
Genet Med. 2006 Apr;8(4):213-6. doi: 10.1097/01.gim.0000214457.58378.1a.
The human DNA helicase RECQL4 interacts in an array of intracellular regulatory pathways from the initiation of DNA replication, through maintaining genomic stability, to the N-end rule pathway. Interestingly, mutations in RECQL4 have recently been revealed not only in Rothmund-Thomson-, but RAPADILINO-, and cases of Baller-Gerold syndrome also. Although these disorders represent distinct genetic entities, clinical observations have delineated highly variable expressivity and significant overlaps in the associated phenotypic manifestations. Consequently, it is especially difficult to draw precise genotype-phenotype correlations in RECQL4 related syndromes. This is likely due to the complex and multiple cellular networks RECQL4 is associated with.
人类DNA解旋酶RECQL4参与一系列细胞内调节途径，从DNA复制起始，到维持基因组稳定性，再到N端规则途径。有趣的是，最近发现RECQL4突变不仅存在于罗思蒙德-汤姆森综合征中，还存在于拉帕迪利诺综合征以及巴勒-杰罗尔德综合征病例中。尽管这些疾病代表不同的遗传实体，但临床观察表明它们具有高度可变的表达性，并且在相关表型表现上有显著重叠。因此，在RECQL4相关综合征中很难得出精确的基因型-表型相关性。这可能是由于RECQL4所关联的复杂且多样的细胞网络。
