Title: Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia
Authors: Brady, Paul
Van Esch, Hilde
Fieremans, Nathalie
Froyen, Guy
Slavotinek, Anne
Deprest, Jan
Devriendt, Koenraad
Vermeesch, Joris # ×
Issue Date: Apr-2015
Publisher: Karger
Series Title: European Journal of Human Genetics vol:23 issue:4 pages:551-4
Article number: 10.1038/ejhg.2014.135
Abstract: Variants in PORCN are a cause of Goltz-Gorlin syndrome or Focal Dermal Hypoplasia, an X-linked dominant disorder affecting heterozygous females and until now considered to be embryonic lethal in males. Exome sequencing was performed in a family in which two male siblings were characterized by microphthalmia and additional congenital anomalies including diaphragmatic hernia, spina bifida and cardiac defects. Surprisingly, we identified a maternally inherited variant in PORCN present in both males as well as in two female siblings. This represents the first finding of a PORCN variant in non-mosaic males affected with Goltz-Gorlin syndrome. The apparently asymptomatic mother showed extreme skewing of X-inactivation (90%), an asymptomatic female sibling showed skewing of 88%, and the second female sibling affected with cutis aplasia of the scalp showed X-inactivation considered within the normal range.European Journal of Human Genetics advance online publication, 16 July 2014; doi:10.1038/ejhg.2014.135.
ISSN: 1018-4813
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Laboratory for Cytogenetics and Genome Research
Human Genome Laboratory
Organ Systems (+)
× corresponding author
# (joint) last author

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