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Pregled bibliografske jedinice broj: 1151738

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

Castilla-Vallmanya, Laura; Selmer, Kaja K; Dimartino, Clémantine; Rabionet, Raquel; Blanco- Sánchez, Bernardo; Yang, Sandra; Reijnders, Margot R F; van Essen, Antonie J; Oufadem, Myriam; Vigeland, Magnus D et al.
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 // Genetics in medicine, 22 (2020), 1215-1226 doi:10.1038/s41436-020-0792-7 (međunarodna recenzija, članak, znanstveni)

CROSBI ID: 1151738 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

Autori
Castilla-Vallmanya, Laura ; Selmer, Kaja K ; Dimartino, Clémantine ; Rabionet, Raquel ; Blanco- Sánchez, Bernardo ; Yang, Sandra ; Reijnders, Margot R F ; van Essen, Antonie J ; Oufadem, Myriam ; Vigeland, Magnus D ; Stadheim, Barbro ; Houge, Gunnar ; Cox, Helen ; Kingston, Helen ; Clayton- Smith, Jill ; Innis, Jeffrey W ; Iascone, Maria ; Cereda, Anna ; Gabbiadini, Sara ; Chung, Wendy K ; Sanders, Victoria ; Charrow, Joel ; Bryant, Emily ; Millichap, John ; Vitobello, Antonio ; Thauvin, Christel ; Mau-Them, Frederic Tran ; Faivre, Laurence ; Lesca, Gaetan ; Labalme, Audrey ; Rougeot, Christelle ; Chatron, Nicolas ; Sanlaville, Damien ; Christensen, Katherine M ; Kirby, Amelia ; Lewandowski, Raymond ; Gannaway, Rachel ; Aly, Maha ; Lehman, Anna ; Clarke, Lorne ; Graul-Neumann, Luitgard ; Zweier, Christiane ; Lessel, Davor ; Lozic, Bernarda ; Aukrust, Ingvild ; Peretz, Ryan ; Stratton, Robert ; Smol, Thomas ; Dieux-Coëslier, Anne ; Meira, Joanna ; Wohler, Elizabeth ; Sobreira, Nara ; Beaver, Erin M ; Heeley, Jennifer ; Briere, Lauren C ; High, Frances A ; Sweetser, David A ; Walker, Melissa A ; Keegan, Catherine E ; Jayakar, Parul ; Shinawi, Marwan ; Kerstjens-Frederikse, Wilhelmina S ; Earl, Dawn L ; Siu, Victoria M ; Reesor Emma ; Yao, Tony ; Hegele, Robert A ; Vaske, Olena M ; Rego, Shannon ; Shapiro, Kevin A ; Wong, Brian ; Gambello, Michael J ; McDonald, Marie ; Karlowicz, Danielle ; Colombo, Roberto ; Serretti, Alessandro ; Pais, Lynn ; O'Donnell-Luria, Anne ; Wray, Alison ; Sadedin, Simon ; Chong, Belinda ; Tan, Tiong Y ; Christodoulou, John ; White, Susan M ; Slavotinek, Anne ; Barbouth, Deborah ; Morel Swols, Dayna ; Parisot, Mélanie ; Bole-Feysot, Christine ; Nitschké, Patrick ; Pingault, Véronique ; Munnich, Arnold ; Cho, Megan T ; Cormier-Daire, Valérie ; Balcells, Susanna ; Lyonnet, Stanislas ; Grinberg, Daniel ; Amiel, Jeanne ; Urreizti, Roser ; Gordon, Christopher.

Izvornik
Genetics in medicine (1098-3600) 22 (2020); 1215-1226

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
TRAF7 ; blepharophimosis ; craniofacial development ; intellectual disability ; patent ductus arteriosus.

Sažetak
Purpose: Somatic variants in tumor necrosis factor receptor-associated factor 7 (TRAF7) cause meningioma, while germline variants have recently been identified in seven patients with developmental delay and cardiac, facial, and digital anomalies. We aimed to define the clinical and mutational spectrum associated with TRAF7 germline variants in a large series of patients, and to determine the molecular effects of the variants through transcriptomic analysis of patient fibroblasts. Methods: We performed exome, targeted capture, and Sanger sequencing of patients with undiagnosed developmental disorders, in multiple independent diagnostic or research centers. Phenotypic and mutational comparisons were facilitated through data exchange platforms. Whole- transcriptome sequencing was performed on RNA from patient- and control-derived fibroblasts. Results: We identified heterozygous missense variants in TRAF7 as the cause of a developmental delay- malformation syndrome in 45 patients. Major features include a recognizable facial gestalt (characterized in particular by blepharophimosis), short neck, pectus carinatum, digital deviations, and patent ductus arteriosus. Almost all variants occur in the WD40 repeats and most are recurrent. Several differentially expressed genes were identified in patient fibroblasts. Conclusion: We provide the first large-scale analysis of the clinical and mutational spectrum associated with the TRAF7 developmental syndrome, and we shed light on its molecular etiology through transcriptome studies.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti



POVEZANOST RADA

Ustanove:
KBC Split,
Medicinski fakultet, Split

Profili:

Avatar Url Bernarda Lozić (autor)

Poveznice na cjeloviti tekst rada:

doi www.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov

Citiraj ovu publikaciju:

Castilla-Vallmanya, Laura; Selmer, Kaja K; Dimartino, Clémantine; Rabionet, Raquel; Blanco- Sánchez, Bernardo; Yang, Sandra; Reijnders, Margot R F; van Essen, Antonie J; Oufadem, Myriam; Vigeland, Magnus D et al.
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 // Genetics in medicine, 22 (2020), 1215-1226 doi:10.1038/s41436-020-0792-7 (međunarodna recenzija, članak, znanstveni)
Castilla-Vallmanya, L., Selmer, K., Dimartino, C., Rabionet, R., Blanco- Sánchez, B., Yang, S., Reijnders, M., van Essen, A., Oufadem, M. & Vigeland, M. (2020) Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genetics in medicine, 22, 1215-1226 doi:10.1038/s41436-020-0792-7.
@article{article, author = {Castilla-Vallmanya, Laura and Selmer, Kaja K and Dimartino, Cl\'{e}mantine and Rabionet, Raquel and Blanco- S\'{a}nchez, Bernardo and Yang, Sandra and Reijnders, Margot R F and van Essen, Antonie J and Oufadem, Myriam and Vigeland, Magnus D and Stadheim, Barbro and Houge, Gunnar and Cox, Helen and Kingston, Helen and Clayton- Smith, Jill and Innis, Jeffrey W and Iascone, Maria and Cereda, Anna and Gabbiadini, Sara and Chung, Wendy K and Sanders, Victoria and Charrow, Joel and Bryant, Emily and Millichap, John and Vitobello, Antonio and Thauvin, Christel and Mau-Them, Frederic Tran and Faivre, Laurence and Lesca, Gaetan and Labalme, Audrey and Rougeot, Christelle and Chatron, Nicolas and Sanlaville, Damien and Christensen, Katherine M and Kirby, Amelia and Lewandowski, Raymond and Gannaway, Rachel and Aly, Maha and Lehman, Anna and Clarke, Lorne and Graul-Neumann, Luitgard and Zweier, Christiane and Lessel, Davor and Lozic, Bernarda and Aukrust, Ingvild and Peretz, Ryan and Stratton, Robert and Smol, Thomas and Dieux-Co\"{e}slier, Anne and Meira, Joanna and Wohler, Elizabeth and Sobreira, Nara and Beaver, Erin M and Heeley, Jennifer and Briere, Lauren C and High, Frances A and Sweetser, David A and Walker, Melissa A and Keegan, Catherine E and Jayakar, Parul and Shinawi, Marwan and Kerstjens-Frederikse, Wilhelmina S and Earl, Dawn L and Siu, Victoria M and Yao, Tony and Hegele, Robert A and Vaske, Olena M and Rego, Shannon and Shapiro, Kevin A and Wong, Brian and Gambello, Michael J and McDonald, Marie and Karlowicz, Danielle and Colombo, Roberto and Serretti, Alessandro and Pais, Lynn and O'Donnell-Luria, Anne and Wray, Alison and Sadedin, Simon and Chong, Belinda and Tan, Tiong Y and Christodoulou, John and White, Susan M and Slavotinek, Anne and Barbouth, Deborah and Morel Swols, Dayna and Parisot, M\'{e}lanie and Bole-Feysot, Christine and Nitschk\'{e}, Patrick and Pingault, V\'{e}ronique and Munnich, Arnold and Cho, Megan T and Cormier-Daire, Val\'{e}rie and Balcells, Susanna and Lyonnet, Stanislas and Grinberg, Daniel and Amiel, Jeanne and Urreizti, Roser and Gordon, Christopher.}, year = {2020}, pages = {1215-1226}, DOI = {10.1038/s41436-020-0792-7}, keywords = {TRAF7, blepharophimosis, craniofacial development, intellectual disability, patent ductus arteriosus.}, journal = {Genetics in medicine}, doi = {10.1038/s41436-020-0792-7}, volume = {22}, issn = {1098-3600}, title = {Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7}, keyword = {TRAF7, blepharophimosis, craniofacial development, intellectual disability, patent ductus arteriosus.} }
@article{article, author = {Castilla-Vallmanya, Laura and Selmer, Kaja K and Dimartino, Cl\'{e}mantine and Rabionet, Raquel and Blanco- S\'{a}nchez, Bernardo and Yang, Sandra and Reijnders, Margot R F and van Essen, Antonie J and Oufadem, Myriam and Vigeland, Magnus D and Stadheim, Barbro and Houge, Gunnar and Cox, Helen and Kingston, Helen and Clayton- Smith, Jill and Innis, Jeffrey W and Iascone, Maria and Cereda, Anna and Gabbiadini, Sara and Chung, Wendy K and Sanders, Victoria and Charrow, Joel and Bryant, Emily and Millichap, John and Vitobello, Antonio and Thauvin, Christel and Mau-Them, Frederic Tran and Faivre, Laurence and Lesca, Gaetan and Labalme, Audrey and Rougeot, Christelle and Chatron, Nicolas and Sanlaville, Damien and Christensen, Katherine M and Kirby, Amelia and Lewandowski, Raymond and Gannaway, Rachel and Aly, Maha and Lehman, Anna and Clarke, Lorne and Graul-Neumann, Luitgard and Zweier, Christiane and Lessel, Davor and Lozic, Bernarda and Aukrust, Ingvild and Peretz, Ryan and Stratton, Robert and Smol, Thomas and Dieux-Co\"{e}slier, Anne and Meira, Joanna and Wohler, Elizabeth and Sobreira, Nara and Beaver, Erin M and Heeley, Jennifer and Briere, Lauren C and High, Frances A and Sweetser, David A and Walker, Melissa A and Keegan, Catherine E and Jayakar, Parul and Shinawi, Marwan and Kerstjens-Frederikse, Wilhelmina S and Earl, Dawn L and Siu, Victoria M and Yao, Tony and Hegele, Robert A and Vaske, Olena M and Rego, Shannon and Shapiro, Kevin A and Wong, Brian and Gambello, Michael J and McDonald, Marie and Karlowicz, Danielle and Colombo, Roberto and Serretti, Alessandro and Pais, Lynn and O'Donnell-Luria, Anne and Wray, Alison and Sadedin, Simon and Chong, Belinda and Tan, Tiong Y and Christodoulou, John and White, Susan M and Slavotinek, Anne and Barbouth, Deborah and Morel Swols, Dayna and Parisot, M\'{e}lanie and Bole-Feysot, Christine and Nitschk\'{e}, Patrick and Pingault, V\'{e}ronique and Munnich, Arnold and Cho, Megan T and Cormier-Daire, Val\'{e}rie and Balcells, Susanna and Lyonnet, Stanislas and Grinberg, Daniel and Amiel, Jeanne and Urreizti, Roser and Gordon, Christopher.}, year = {2020}, pages = {1215-1226}, DOI = {10.1038/s41436-020-0792-7}, keywords = {TRAF7, blepharophimosis, craniofacial development, intellectual disability, patent ductus arteriosus.}, journal = {Genetics in medicine}, doi = {10.1038/s41436-020-0792-7}, volume = {22}, issn = {1098-3600}, title = {Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7}, keyword = {TRAF7, blepharophimosis, craniofacial development, intellectual disability, patent ductus arteriosus.} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE

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