Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?
| Autor: | Paolo Gasparini, Roberta Bottega, Silvia Onesti, Enrico Cappelli, Anna Carbone, Flavio Faletra, Anna Savoia, Fabio Corsolini, Luisa M. R. Napolitano |
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| Přispěvatelé: | Bottega, R., Napolitano, L. M. R., Carbone, A., Cappelli, E., Corsolini, F., Onesti, S., Savoia, A., Gasparini, P., Faletra, F. |
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Biallelic Mutation Pathology Microcephaly DDX11 030105 genetics & heredity Sensorineural medicine.disease_cause Compound heterozygosity DNA Helicase DEAD-box RNA Helicases Child Genetics (clinical) Cells Cultured Mutation Cultured Cafe-au-Lait Spots Syndrome Phenotype Hypoplasia mutations Warsaw Breakage Syndrome Abnormalities Multiple Cell Line Child Preschool DNA Helicases Female Hearing Loss Sensorineural Humans medicine.symptom Abnormalities Multiple Human medicine.medical_specialty Hearing loss Cells DEAD-box RNA Helicase 03 medical and health sciences Genetics medicine Cafe-au-Lait Spot Preschool Hearing Loss Molecular Biology business.industry medicine.disease 030104 developmental biology business |
| Popis: | Background: Warsaw Breakage Syndrome (WABS) is an ultra rare cohesinopathy caused by biallelic mutation of DDX11 gene. It is clinically characterized by pre and postnatal growth delay, microcephaly, hearing loss with cochlear hypoplasia, skin color abnormalities, and dysmorphisms. Methods: Mutational screening and functional analyses (protein expression and 3D-modeling) were performed in order to investigate the presence and pathogenicity of DDX11 variant identified in our patients. Results: We report the clinical history of two sisters affected by WABS with a pathological mytomicin C test carrying compound heterozygous mutations (c.2507T>C / c.907_920del) of the DDX11 gene. The pathogenicity of this variant was confirmed in the light of a bioinformatic study and protein three-dimensional modeling, as well as expression analysis. Conclusion: These findings further extend the clinical and molecular knowledge about the WABS showing a possible mild phenotype without major malformations or intellectual disability. |
| Databáze: | OpenAIRE |
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