Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype

American Journal of Medical Genetics. Part a
Christiane ZweierAnita Rauch

Abstract

Mowat-Wilson syndrome is a recently delineated severe mental retardation, multiple congenital anomalies syndrome caused by dominant nonsense or frameshift mutations, deletions or translocations of the zinc finger homeobox 1B gene (ZFHX1B). We report on a patient with exceptional mild phenotype caused by a novel and unusual splice mutation in the 5'UTR. The aberrant transcript leads to usage of an alternative upstream start codon. The resulting protein differs from the wild-type only in the first 24 amino acids. The aberrant protein therefore contains all known functional domains, but might lack a so far unrecognized putative N-terminal acylation site, which is probably important for neuronal function and facial structures.

References

Aug 31, 2001·The Journal of Biological Chemistry·T A FaraziJ I Gordon
Sep 24, 2004·American Journal of Medical Genetics. Part a·C Y Gregory-EvansK Gregory-Evans
Aug 2, 2005·European Journal of Medical Genetics·Christiane ZweierAnita Rauch
Aug 10, 2005·American Journal of Medical Genetics. Part a·Julie McGaughranMichel Goossens

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Citations

Feb 24, 2011·European Journal of Human Genetics : EJHG·Marcella ZollinoAnita Rauch
Oct 26, 2007·Orphanet Journal of Rare Diseases·Livia Garavelli, Paola Cerruti Mainardi
Dec 22, 2015·American Journal of Medical Genetics. Part a·Elizabeth EvansStewart Einfeld
Jun 15, 2007·American Journal of Medical Genetics. Part a·Sibylle StrengeUrsula G Froster
Nov 15, 2006·American Journal of Medical Genetics. Part a·Margaret P AdamLouanne Hudgins
Jan 17, 2013·American Journal of Medical Genetics. Part a·Duccio Maria CordelliEmilio Franzoni
Jul 15, 2015·Pediatric Surgery International·David Coyle, Prem Puri
Nov 11, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Livia GaravelliAlex R Paciorkowski
Jan 5, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Ivan IvanovskiLivia Garavelli
Jan 5, 2007·Human Mutation·Florence Dastot-Le MoalMichel Goossens
Jul 3, 2021·Genes·Duccio Maria CordelliEmilia Ricci

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