Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome
Copyright policy )Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome
Sensenbrenner syndrome/cranioectodermal dysplasia (CED) is an autosomal-recessive disease that is characterized by craniosynostosis and ectodermal and skeletal abnormalities. We sequenced the exomes of two unrelated CED patients and identified compound heterozygous mutations in WDR35 as the cause of the disease in each of the two patients independently, showing that it is possible to find the causative gene by sequencing the exome of a single sporadic patient. With RT-PCR, we demonstrate that a splice-site mutation in exon 2 of WDR35 alters splicing of RNA on the affected allele, introducing a premature stop codon. WDR35 is homologous to TULP4 (from the Tubby superfamily) and has previously been characterized as an intraflagellar transport component, confirming that Sensenbrenner syndrome is a ciliary disorder.
- University of Groningen Netherlands
- Radboud University Nijmegen Netherlands
- Leiden University Netherlands
- Leiden University Medical Centre
- Radboud University Nijmegen Medical Centre Netherlands
asphyxiating thoracic dystrophy cranioectodermal dysplasia retinal degeneration mutations mouse cilia protein obesity genome tulp3, Sensenbrenner syndrome, Mutation/genetics, WDR35, DNA Mutational Analysis, Molecular Sequence Data, NCMLS 6: Genetics and epigenetic pathways of disease, IGMD 3: Genomic disorders and inherited multi-system disorders, Ectodermal Dysplasia, Exons/genetics, Genetics, Humans, Genetics(clinical), Abnormalities, Multiple, Membrane Proteins/genetics, RNA Splice Sites/genetics, Child, Base Sequence, IGMD 9: Renal disorder, Membrane Proteins, Exons, Sequence Analysis, DNA, Syndrome, Ectodermal Dysplasia/genetics, DNA/methods, Multiple/genetics, Apoptosis Regulatory Proteins/genetics, Mutation, RNA Splice Sites, Abnormalities, Apoptosis Regulatory Proteins, exome sequencing, Sequence Analysis
asphyxiating thoracic dystrophy cranioectodermal dysplasia retinal degeneration mutations mouse cilia protein obesity genome tulp3, Sensenbrenner syndrome, Mutation/genetics, WDR35, DNA Mutational Analysis, Molecular Sequence Data, NCMLS 6: Genetics and epigenetic pathways of disease, IGMD 3: Genomic disorders and inherited multi-system disorders, Ectodermal Dysplasia, Exons/genetics, Genetics, Humans, Genetics(clinical), Abnormalities, Multiple, Membrane Proteins/genetics, RNA Splice Sites/genetics, Child, Base Sequence, IGMD 9: Renal disorder, Membrane Proteins, Exons, Sequence Analysis, DNA, Syndrome, Ectodermal Dysplasia/genetics, DNA/methods, Multiple/genetics, Apoptosis Regulatory Proteins/genetics, Mutation, RNA Splice Sites, Abnormalities, Apoptosis Regulatory Proteins, exome sequencing, Sequence Analysis
citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).257 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Top 1% influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Top 1% impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Top 0.1%
Citations provided by BIP!Popularity provided by BIP!