Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype.
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.
Zweier
Christiane
C
Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany. Christiane.Zweier@humgenet.uni-erlangen.de
Horn
Denise
D
Kraus
Cornelia
C
Rauch
Anita
A
D020121:5' Untranslated Regions; D000015:Abnormalities, Multiple / Q000235:genetics*; D000215:Acylation; D000595:Amino Acid Sequence; D002675:Child, Preschool; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype; D022821:RNA Splice Sites / Q000235:genetics; D012097:Repressor Proteins / Q000235:genetics*; D013577:Syndrome; D000074165:Zinc Finger E-box Binding Homeobox 2
D020121:5' Untranslated Regions; D018398:Homeodomain Proteins; D022821:RNA Splice Sites; D012097:Repressor Proteins; C492363:ZEB2 protein, human; D000074165:Zinc Finger E-box Binding Homeobox 2