PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females

Molecular Syndromology

G. Houge¹  A. Brendehaug¹  S. Berland¹  K. Alme¹  R. Hovland¹ 

[1] aCenter for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen

关键词: Female;    Mental retardation;    Oligonucleotide array analysis;    PHF6;    Pigmentation disorders;    Syndactyly;    X chromosome inactivation;   

DOI  :  10.1159/000330111

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

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.

【 授权许可】

Unknown