Feldman G J, Ward D E, Lajeunie-Renier E, Saavedra D, Robin N H, Proud V, Robb L J, Der Kaloustian V, Carey J C, Cohen M M, Cormier V, Munnich A, Zackai E H, Wilkie A O, Price R A, Muenke M
Children's Hospital of Philadelphia, Division of Human Genetics and Molecular Biology, PA, USA.
Hum Mol Genet. 1997 Oct;6(11):1937-41. doi: 10.1093/hmg/6.11.1937.
Craniofrontonasal syndrome (CFNS, OMIM 304110) is a distinctive genetic disorder whose main clinical manifestations include coronal synostosis, widely spaced eyes, clefting of the nasal tip and various skeletal anomalies. CFNS originally was thought to be transmitted as an autosomal dominant trait, but recent studies suggest that it is X-linked dominant, whereby all daughters of males are affected, whereas none of their sons are affected. Here we report data confirming that CFNS is X-linked, mapping to a 13 cM interval in Xp22 with a maximum two-point lod score of 3.9 (theta = 0) at DXS8022 and a multipoint lod score of 5.08 at DXS1224. Detailed phenotypic analysis shows that females are more severely affected than males, a highly unusual characteristic for an X-linked disorder. CFNS represents the first multiple congenital anomaly syndrome with this unusual phenotypic pattern of X-linked inheritance.
颅额鼻综合征（CFNS，OMIM 304110）是一种独特的遗传性疾病，其主要临床表现包括冠状缝早闭、眼距增宽、鼻尖裂及各种骨骼异常。CFNS最初被认为是常染色体显性遗传性状，但最近的研究表明它是X连锁显性遗传，即男性的所有女儿都会患病，而其儿子均不会患病。在此我们报告数据证实CFNS是X连锁的，定位于Xp22的一个13 cM区间，在DXS8022处最大两点连锁值为3.9（θ = 0），在DXS1224处多点连锁值为5.08。详细的表型分析显示女性比男性受影响更严重，这是X连锁疾病非常罕见的特征。CFNS代表了首例具有这种不寻常X连锁遗传表型模式的多发性先天性异常综合征。
