Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature.

doi:10.1038/ejhg.2016.133

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Article

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature.

European journal of human genetics : EJHG - 1 Jan 2016

El Chehadeh Salima, Kerstjens-Frederikse Wilhelmina S, Thevenon Julien, Kuentz Paul, Bruel Ange-Line, Thauvin-Robinet Christel, Bensignor Candace, Dollfus Hélène, Laugel Vincent, Rivière Jean-Baptiste, Duffourd Yannis, Bonnet Caroline, Robert Matthieu P, Isaiko Rodica, Straub Morgane, Creuzot-Garcher Catherine, Calvas Patrick, Chassaing Nicolas, Loeys Bart, Reyniers Edwin, Vandeweyer Geert, Kooy Frank, Hančárová Miroslava, Havlovicová Marketa, Prchalová Darina, Sedláček Zdenek, Gilissen Christian, Pfundt Rolph, Wassink-Ruiter Jolien S Klein, Faivre Laurence

Abstract excerpt

Verheij syndrome, also called 8q24.3 microdeletion syndrome, is a rare condition characterized by ante- and postnatal growth retardation, microcephaly, vertebral anomalies, joint laxity/dislocation, developmental delay (DD), cardiac and renal defects and dysmorphic features. Recently, PUF60 (Poly-U Binding Splicing Factor 60 kDa), which encodes a component of the spliceosome, has been discussed as the best...

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Identifiers

PMID: 27804958
DOI: 10.1038/ejhg.2016.133
PMCID: PMC5159768

Genes

PUF60

Variants

Provenance

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Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature.PMID 27804958Read ↗

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