Berland S, Alme K, Brendehaug A, Houge G, Hovland R
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen.
Mol Syndromol. 2011 Sep;1(6):294-300. doi: 10.1159/000330111. Epub 2011 Jul 19.
In a 16-year-old girl with intellectual disability, irregular teeth, slight body asymmetry, and striated skin pigmentation, highly skewed X-inactivation increased the likelihood of an X-linked cause of her condition. Among these, prominent supraorbital ridges and hearing loss suggested a filaminopathy, but no filamin A mutation was found. The correct diagnosis, Borjeson-Forssman-Lehmann syndrome (BFLS, MIM#301900), was first made when a copy number array identified a de novo 15-kb deletion of the terminal 3 exons of the PHF6 gene. In retrospect, her phenotype resembled that of males with BFLS. Such deletions of PHF6 have not been reported previously. This might be because PHF6 mutations are rarely looked for in females since classical BFLS so far has been thought to be a male-specific syndrome, and large PHF6 deletions might be incompatible with male fetal survival. If this is the case, sporadic BFLS could be more frequent in females than in males.
在一名患有智力残疾、牙齿不齐、身体轻度不对称和皮肤有条纹状色素沉着的16岁女孩中，高度偏态的X染色体失活增加了其病情由X连锁因素导致的可能性。其中，明显的眶上嵴和听力损失提示为细丝蛋白病，但未发现细丝蛋白A突变。当拷贝数阵列鉴定出PHF6基因末端3个外显子的15kb新发缺失时，才首次做出正确诊断，即博耶森 - 福斯曼 - 莱曼综合征（BFLS，MIM#301900）。回顾来看，她的表型与患有BFLS的男性相似。此前尚未报道过这种PHF6缺失情况。这可能是因为迄今为止经典的BFLS一直被认为是男性特有的综合征，所以很少在女性中寻找PHF6突变，而且大的PHF6缺失可能与男性胎儿存活不相容。如果是这种情况，散发性BFLS在女性中可能比在男性中更常见。
