SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type.

Errichiello, Edoardo; Mustafa, Noor; Vetro, Annalisa; Notarangelo, Lucia Dora; de Jonge, Hugo; Rinaldi, Berardo; Vergani, Debora; Giglio, Sabrina Rita; Morbini, Patrizia; Zuffardi, Orsetta

Errichiello, Edoardo; Mustafa, Noor; Vetro, Annalisa; Notarangelo, Lucia Dora; de Jonge, Hugo; Rinaldi, Berardo; Vergani, Debora; Giglio, Sabrina Rita; Morbini, Patrizia; Zuffardi, Orsetta.

Affiliation

Errichiello E; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
Mustafa N; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
Vetro A; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
Notarangelo LD; Unit of Paediatric Oncology, Spedali Civili di Brescia, Brescia, Italy.
de Jonge H; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
Rinaldi B; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
Vergani D; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
Giglio SR; Department of Biomedical, Experimental and Clinical Sciences 'Mario Serio', Florence, Italy.
Morbini P; Medical Genetic Unit, Meyer Children's University Hospital, Florence, Italy.
Zuffardi O; Department of Molecular Medicine, University of Pavia, Pavia, Italy.

J Pathol ; 243(1): 9-15, 2017 09.

Article in En | MEDLINE | ID: mdl-28608987

Subject(s)

Abnormalities, Multiple/genetics; Biomarkers, Tumor/genetics; Carcinoma, Small Cell/genetics; Codon, Nonsense; DNA Helicases/genetics; Face/abnormalities; Frameshift Mutation; Hand Deformities, Congenital/genetics; Hypercalcemia/genetics; Intellectual Disability/genetics; Micrognathism/genetics; Microphthalmos/genetics; Neck/abnormalities; Nuclear Proteins/genetics; Ovarian Neoplasms/genetics; Transcription Factors/genetics; Abnormalities, Multiple/diagnosis; Abnormalities, Multiple/metabolism; Adolescent; Biomarkers, Tumor/analysis; Blotting, Western; Carcinoma, Small Cell/chemistry; Carcinoma, Small Cell/diagnosis; DNA Helicases/analysis; DNA Mutational Analysis; Female; Genetic Predisposition to Disease; Hand Deformities, Congenital/diagnosis; Hand Deformities, Congenital/metabolism; Heterozygote; Humans; Hypercalcemia/diagnosis; Hypercalcemia/metabolism; Immunohistochemistry; Intellectual Disability/diagnosis; Intellectual Disability/metabolism; Male; Micrognathism/diagnosis; Micrognathism/metabolism; Microphthalmos/diagnosis; Microphthalmos/metabolism; Middle Aged; Nuclear Proteins/analysis; Ovarian Neoplasms/chemistry; Ovarian Neoplasms/diagnosis; Pedigree; Phenotype; RNA, Messenger/genetics; Reverse Transcriptase Polymerase Chain Reaction; Transcription Factors/analysis

Key words

Coffin-Siris syndrome (CSS); SMARCA4/BRG1; SWI/SNF complex; chromatin remodelling factors; haploinsufficiency; intellectual disability; microphthalmia; nonsense-mediated mRNA decay (NMD); small-cell carcinoma of the ovary hypercalcaemic type (SCCOHT); whole-exome sequencing (WES)

Fulltext

XML

PubMed Links

Search on Google

Full text: 1 Database: MEDLINE Main subject: Ovarian Neoplasms / Transcription Factors / Abnormalities, Multiple / Hand Deformities, Congenital / Nuclear Proteins / Biomarkers, Tumor / Microphthalmos / Frameshift Mutation / Carcinoma, Small Cell / DNA Helicases Type of study: Diagnostic_studies / Prognostic_studies Language: En Year: 2017 Type: Article

Fulltext

XML

PubMed Links

Search on Google