Your browser doesn't support javascript.
loading
The PHF6 Mutation c.1A>G; pM1V Causes Börjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys.
Ernst, Anja; Le, Vang Q; Højland, Allan T; Pedersen, Inge S; Sørensen, Tine H; Bjerregaard, Lise L; Lyngbye, Troels J B; Gammelager, Ninna M; Krarup, Henrik; Petersen, Michael B.
Afiliação
  • Ernst A; Section of Molecular Diagnostics, Clinical Biochemistry, Aalborg University Hospital, Aalborg, Denmark.
  • Le VQ; Section of Molecular Diagnostics, Clinical Biochemistry, Aalborg University Hospital, Aalborg, Denmark.
  • Højland AT; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark.
  • Pedersen IS; Section of Molecular Diagnostics, Clinical Biochemistry, Aalborg University Hospital, Aalborg, Denmark.
  • Sørensen TH; Department of Pediatrics, Aalborg University Hospital, Aalborg, Denmark.
  • Bjerregaard LL; Department of Pediatrics, Aalborg University Hospital, Aalborg, Denmark.
  • Lyngbye TJ; Center for Deafblindness and Hearing Impairment, Aalborg, Denmark ; Department of Pediatrics, Aarhus University Hospital, Aarhus, Denmark.
  • Gammelager NM; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark.
  • Krarup H; Section of Molecular Diagnostics, Clinical Biochemistry, Aalborg University Hospital, Aalborg, Denmark.
  • Petersen MB; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark ; Department of Clinical Medicine, Aalborg University, Aalborg, Denmark.
Mol Syndromol ; 6(4): 181-6, 2015 Oct.
Article em En | MEDLINE | ID: mdl-26648834
ABSTRACT
The family presented with 4 boys, 2 sets of brothers, with unexplained intellectual disability. Numerous analyses had been conducted over more than a decade, without reaching a final clinical or molecular diagnosis. According to the pedigree, an X-linked inheritance pattern was strongly suspected. Whole-exome sequencing (WES) with targeted analysis of the coding regions of the X chromosome was carried out in the 4 boys, their mothers, and their shared grandmother. A filtering process searching for nonsynonymous variants and variants in the exon-intron boundaries revealed one variant, c.1A>G; pM1V, in the first codon of the PHF6 gene. The variant was hemizygous in the 4 boys and heterozygous in the 2 mothers and the grandmother. Mutations in the PHF6 gene are known to cause Börjeson-Forsman-Lehmann syndrome (BFLS). The boys were reexamined after the finding of the mutation, and the phenotype fitted perfectly with BFLS. The mutation found in the PHF6 gene is causative for the intellectual disability in this family. We also conclude that WES of the X chromosome is a powerful tool in families where an X-linked inheritance pattern is suspected.
Palavras-chave

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Etiology_studies Idioma: En Ano de publicação: 2015 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Etiology_studies Idioma: En Ano de publicação: 2015 Tipo de documento: Article