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Pregled bibliografske jedinice broj: 1267928

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

Zhang, Chaofan; Jolly, Angad; Shayota, Brian; Mazzeu, Juliana; Du, Haowei; Dawood, Moez; Celestino, Patricia; Ramalho, Ariadne; Merfort, Bárbara; Coban-Akdemir, Zeynep et al.
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability // HGG Advances, 3 (2022), 1; 100074-100093 doi:10.1016/j.xhgg.2021.100074 (međunarodna recenzija, članak, znanstveni)

CROSBI ID: 1267928 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

Autori
Zhang, Chaofan ; Jolly, Angad ; Shayota, Brian ; Mazzeu, Juliana ; Du, Haowei ; Dawood, Moez ; Celestino, Patricia ; Ramalho, Ariadne ; Merfort, Bárbara ; Coban-Akdemir, Zeynep ; White, Janson ; Shears, Deborah ; Robert, Fraser ; Douglas, Sarah ; Wainwright, Andrew ; Bailey, Kathryn ; Wordsworth, Paul ; Oldridge, Mike ; Lester, Tracy ; Calder, Alistair ; Dumic, Katja ; Banka, Siddharth ; Donnai, Dian ; Jhangiani, Shalini ; Potocki, Lorraine ; Chung, Wendy ; Mora, Sara ; Northrup, Hope ; Ashfaq, Myla ; Rosenfeld, Jill ; Mason, Kati ; Pollack, Lynda ; McConkie-Rosell, Allyn ; Kelly, Wei ; McDonald, Marie ; Hauser, Natalie ; Leahy, Peter ; Powell, Cynthia ; Boy, Raquel ; Sayuri, Rachel ; Kok, Fernando ; Martelli, Lucia ; Filho, Vicente ; Muzny, Vicente ; Gibbs, Richard ; Posey, Jennifer ; Liu, Pengfei ; Lupski, James ; Sutton, Reid ; Carvalho, Claudia

Izvornik
HGG Advances (2666-2477) 3 (2022), 1; 100074-100093

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

Ključne riječi
DVL2 ; HPO terms ; genotype-phenotype correlation ; indel mutations ; molecular diagnosis ; quantitative phenotyping cluster heatmap ; screw-tail breed dogs ; skeletal dysplasia ; traits and OMIM clinical synopsis

Sažetak
Robinow syndrome (RS) is a genetically heterogeneous disorder with six genes that converge on the WNT/planar cell polarity (PCP) signaling pathway implicated (DVL1, DVL3, FZD2, NXN, ROR2, and WNT5A). RS is characterized by skeletal dysplasia and distinctive facial and physical characteristics. To further explore the genetic heterogeneity, paralog contribution, and phenotypic variability of RS, we investigated a cohort of 22 individuals clinically diagnosed with RS from 18 unrelated families. Pathogenic or likely pathogenic variants in genes associated with RS or RS phenocopies were identified in all 22 individuals, including the first variant to be reported in DVL2. We retrospectively collected medical records of 16 individuals from this cohort and extracted clinical descriptions from 52 previously published cases. We performed Human Phenotype Ontology (HPO) based quantitative phenotypic analyses to dissect allele-specific phenotypic differences. Individuals with FZD2 variants clustered into two groups with demonstrable phenotypic differences between those with missense and truncating alleles. Probands with biallelic NXN variants clustered together with the majority of probands carrying DVL1, DVL2, and DVL3 variants, demonstrating no phenotypic distinction between the NXN-autosomal recessive and dominant forms of RS. While phenotypically similar diseases on the RS differential matched through HPO analysis, clustering using phenotype similarity score placed RS-associated phenotypes in a unique cluster containing WNT5A, FZD2, and ROR2 apart from non-RS-associated paralogs. Through human phenotype analyses of this RS cohort and OMIM clinical synopses of Mendelian disease, this study begins to tease apart specific biologic roles for non-canonical WNT-pathway proteins.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA

Ustanove:
Medicinski fakultet, Zagreb,
Klinički bolnički centar Zagreb

Profili:

Avatar Url Katja Dumić Kubat (autor)

Poveznice na cjeloviti tekst rada:

doi www.sciencedirect.com

Citiraj ovu publikaciju:

Zhang, Chaofan; Jolly, Angad; Shayota, Brian; Mazzeu, Juliana; Du, Haowei; Dawood, Moez; Celestino, Patricia; Ramalho, Ariadne; Merfort, Bárbara; Coban-Akdemir, Zeynep et al.
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability // HGG Advances, 3 (2022), 1; 100074-100093 doi:10.1016/j.xhgg.2021.100074 (međunarodna recenzija, članak, znanstveni)
Zhang, C., Jolly, A., Shayota, B., Mazzeu, J., Du, H., Dawood, M., Celestino, P., Ramalho, A., Merfort, B. & Coban-Akdemir, Z. (2022) Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability. HGG Advances, 3 (1), 100074-100093 doi:10.1016/j.xhgg.2021.100074.
@article{article, author = {Zhang, Chaofan and Jolly, Angad and Shayota, Brian and Mazzeu, Juliana and Du, Haowei and Dawood, Moez and Celestino, Patricia and Ramalho, Ariadne and Merfort, B\'{a}rbara and Coban-Akdemir, Zeynep and White, Janson and Shears, Deborah and Robert, Fraser and Douglas, Sarah and Wainwright, Andrew and Bailey, Kathryn and Wordsworth, Paul and Oldridge, Mike and Lester, Tracy and Calder, Alistair and Dumic, Katja and Banka, Siddharth and Donnai, Dian and Jhangiani, Shalini and Potocki, Lorraine and Chung, Wendy and Mora, Sara and Northrup, Hope and Ashfaq, Myla and Rosenfeld, Jill and Mason, Kati and Pollack, Lynda and McConkie-Rosell, Allyn and Kelly, Wei and McDonald, Marie and Hauser, Natalie and Leahy, Peter and Powell, Cynthia and Boy, Raquel and Sayuri, Rachel and Kok, Fernando and Martelli, Lucia and Filho, Vicente and Muzny, Vicente and Gibbs, Richard and Posey, Jennifer and Liu, Pengfei and Lupski, James and Sutton, Reid and Carvalho, Claudia}, year = {2022}, pages = {100074-100093}, DOI = {10.1016/j.xhgg.2021.100074}, keywords = {DVL2, HPO terms, genotype-phenotype correlation, indel mutations, molecular diagnosis, quantitative phenotyping cluster heatmap, screw-tail breed dogs, skeletal dysplasia, traits and OMIM clinical synopsis}, journal = {HGG Advances}, doi = {10.1016/j.xhgg.2021.100074}, volume = {3}, number = {1}, issn = {2666-2477}, title = {Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability}, keyword = {DVL2, HPO terms, genotype-phenotype correlation, indel mutations, molecular diagnosis, quantitative phenotyping cluster heatmap, screw-tail breed dogs, skeletal dysplasia, traits and OMIM clinical synopsis} }
@article{article, author = {Zhang, Chaofan and Jolly, Angad and Shayota, Brian and Mazzeu, Juliana and Du, Haowei and Dawood, Moez and Celestino, Patricia and Ramalho, Ariadne and Merfort, B\'{a}rbara and Coban-Akdemir, Zeynep and White, Janson and Shears, Deborah and Robert, Fraser and Douglas, Sarah and Wainwright, Andrew and Bailey, Kathryn and Wordsworth, Paul and Oldridge, Mike and Lester, Tracy and Calder, Alistair and Dumic, Katja and Banka, Siddharth and Donnai, Dian and Jhangiani, Shalini and Potocki, Lorraine and Chung, Wendy and Mora, Sara and Northrup, Hope and Ashfaq, Myla and Rosenfeld, Jill and Mason, Kati and Pollack, Lynda and McConkie-Rosell, Allyn and Kelly, Wei and McDonald, Marie and Hauser, Natalie and Leahy, Peter and Powell, Cynthia and Boy, Raquel and Sayuri, Rachel and Kok, Fernando and Martelli, Lucia and Filho, Vicente and Muzny, Vicente and Gibbs, Richard and Posey, Jennifer and Liu, Pengfei and Lupski, James and Sutton, Reid and Carvalho, Claudia}, year = {2022}, pages = {100074-100093}, DOI = {10.1016/j.xhgg.2021.100074}, keywords = {DVL2, HPO terms, genotype-phenotype correlation, indel mutations, molecular diagnosis, quantitative phenotyping cluster heatmap, screw-tail breed dogs, skeletal dysplasia, traits and OMIM clinical synopsis}, journal = {HGG Advances}, doi = {10.1016/j.xhgg.2021.100074}, volume = {3}, number = {1}, issn = {2666-2477}, title = {Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability}, keyword = {DVL2, HPO terms, genotype-phenotype correlation, indel mutations, molecular diagnosis, quantitative phenotyping cluster heatmap, screw-tail breed dogs, skeletal dysplasia, traits and OMIM clinical synopsis} }

Časopis indeksira:


  • Web of Science Core Collection (WoSCC)
    • Emerging Sources Citation Index (ESCI)
  • Scopus

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