About: Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition

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About: Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition Goto Sponge NotDistinct Permalink

An Entity of Type : schema:ScholarlyArticle, within Data Space : wasabi.inria.fr associated with source document(s)

Attributes	Values
type	Academic Article research paper schema:ScholarlyArticle
isDefinedBy	Covid-on-the-Web dataset
has title	Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition
Creator	Demaerel, Wolfram Emanuel, Beverly Geremek, Maciej Graham, Gail Hestand, Matthew Kammoun, Molka Nowakowska, Beata Unolt, Marta Vermeesch, Joris Zackai, Elaine Crowley, T Mcdonald-Mcginn, Donna
Source	PMC
abstract	PURPOSE: The 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion in humans, with highly variable phenotypic expression. Whereas congenital heart defects, palatal anomalies, immunodeficiency, hypoparathyroidism, and neuropsychiatric conditions are observed in over 50% of patients with 22q11DS, a subset of patients present with additional “atypical” findings such as craniosynostosis and anorectal malformations. Recently, pathogenic variants in the CDC45 (Cell Division Cycle protein 45) gene, located within the LCR22A–LCR22B region of chromosome 22q11.2, were noted to be involved in the pathogenesis of craniosynostosis. METHODS: We performed next-generation sequencing on DNA from 15 patients with 22q11.2DS and atypical phenotypic features such as craniosynostosis, short stature, skeletal differences, and anorectal malformations. RESULTS: We identified four novel rare nonsynonymous variants in CDC45 in 5/15 patients with 22q11.2DS and craniosynostosis and/or other atypical findings. CONCLUSION: This study supports CDC45 as a causative gene in craniosynostosis, as well as a number of other anomalies. We suggest that this association results in a condition independent of Meier–Gorlin syndrome, perhaps representing a novel condition and/or a cause of features associated with Baller–Gerold syndrome. In addition, this work confirms that the phenotypic variability observed in a subset of patients with 22q11.2DS is due to pathogenic variants on the nondeleted chromosome.
has issue date	2019-09-02(xsd:dateTime)
bibo:doi	10.1038/s41436-019-0645-4
bibo:pmid	31474763
has license	no-cc
sha1sum (hex)	98c7515e83cd0e70695ef505b80387478d7d35d6
schema:url	https://doi.org/10.1038/s41436-019-0645-4
resource representing a document's title	Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition
has PubMed Central identifier	PMC7197230
has PubMed identifier	31474763
schema:publication	Genet Med
resource representing a document's body	covid:98c7515e83cd0e70695ef505b80387478d7d35d6#body_text
is schema:about of	named entity 'result' named entity 'deletion' named entity 'allele' covid:arg/98c7515e83cd0e70695ef505b80387478d7d35d6 named entity 'chromosome 22q11' named entity 'human genome' named entity 'The Children's Hospital of Philadelphia' named entity 'minor allele frequency' named entity 'Cdc45' named entity 'craniosynostosis' named entity 'ventilator' named entity 'congenital myasthenic syndrome' named entity 'nonsynonymous' named entity 'foramen magnum' named entity 'cleft palate' named entity 'congenital heart defects' named entity '22q11.2 deletion syndrome' named entity 'congenital diaphragmatic hernia' named entity 'gene' named entity 'congenital' named entity 'messenger RNAs' named entity 'mosaicism' named entity 'PCR' named entity '22q' named entity 'deletions' named entity 'hypoplasia' named entity 'computed tomography' named entity 'aplasia' named entity 'thyroid' named entity 'agenesis' named entity 'SNP' named entity 'biallelic' named entity 'cleft lip/palate' named entity 'Cdc45' named entity 'exome sequencing' named entity 'anorectal malformations' named entity 'malignancy' named entity 'next-generation sequencing' named entity 'preaxial polydactyly' named entity 'CDC45' named entity 'rare variants' named entity 'CDC45' named entity 'anus' named entity 'craniosynostosis' named entity 'craniosynostosis' named entity 'CDC45' named entity 'proximal' named entity 'correlation' named entity 'pregnancy' named entity 'hypertelorism' named entity 'gestation' named entity 'recessive' named entity 'CDC45' named entity 'heterozygous' named entity 'yeasts' named entity 'variable expression' named entity 'phenotype' named entity 'short stature' named entity 'Exome sequencing' named entity 'clavicles' named entity 'protein' named entity 'multidisciplinary program' named entity 'CDC45' named entity 'hypomagnesemia' named entity 'splice sites' named entity 'short stature' named entity 'pathogenicity' named entity 'DNA replication' named entity 'paired-end' named entity 'short stature'

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