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Original Article

Free Access

The PHF6 Mutation c.1A>G; pM1V Causes Börjeson-Forsman-Lehmann Syndrome in a Family with Four Affected Young Boys

Ernst A.a · Le V.Q.a · Højland A.T.b · Pedersen I.S.a · Sørensen T.H.c · Bjerregaard L.L.c · Lyngbye T.J.B.e, f · Gammelager N.M.b · Krarup H.a · Petersen M.B.b, d

Author affiliations

aSection of Molecular Diagnostics, Clinical Biochemistry, and Departments of bClinical Genetics and cPediatrics, Aalborg University Hospital, dDepartment of Clinical Medicine, Aalborg University, and eCenter for Deafblindness and Hearing Impairment, Aalborg, and fDepartment of Pediatrics, Aarhus University Hospital, Aarhus, Denmark

Corresponding Author

Anja Ernst

Section of Molecular Diagnostics, Clinical Biochemistry

Aalborg University Hospital, Reberbansgade 15

DK-9000 Aalborg (Denmark)

E-Mail ae@rn.dk

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Mol Syndromol 2015;6:181-186

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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.

© 2015 S. Karger AG, Basel

Article / Publication Details

First-Page Preview
Abstract of Original Article

Accepted: September 08, 2015
Published online: September 29, 2015
Issue release date: October 2015

Number of Print Pages: 6
Number of Figures: 4
Number of Tables: 2

ISSN: 1661-8769 (Print)
eISSN: 1661-8777 (Online)

For additional information: http://www.karger.com/MSY

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