Phenotypic and mutational spectrum of ROR2-related Robinow syndrome

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dc.catalogadorjca
dc.contributor.authorLima, A.R.
dc.contributor.authorFerreira, B.M.
dc.contributor.authorZhang, C.
dc.contributor.authorJolly, A.
dc.contributor.authorDu, H.
dc.contributor.authorWhite, J.J.
dc.contributor.authorDawood, M.
dc.contributor.authorLins, T.C.
dc.contributor.authorChiabai, M.A.
dc.contributor.authorvan Beusekom, E.
dc.contributor.authorCordoba, M.S.
dc.contributor.authorCaldas Rosa, E.C.C.
dc.contributor.authorKayserili, H.
dc.contributor.authorKimonis, V.
dc.contributor.authorWu, E.
dc.contributor.authorMellado, Cecilia
dc.contributor.authorAggarwal, V.
dc.contributor.authorRichieri-Costa, A.
dc.contributor.authorBrunoni, D.
dc.contributor.authorCanó, T.M.
dc.contributor.authorJorge, A.A.L.
dc.contributor.authorKim, C.A.
dc.contributor.authorHonjo, R.
dc.contributor.authorBertola, D.R.
dc.contributor.authorDandalo-Girardi, R.M.
dc.contributor.authorBayram, Y.
dc.contributor.authorGezdirici, A.
dc.contributor.authorYilmaz-Gulec, E.
dc.contributor.authorGumus, E.
dc.contributor.authorYilmaz, G.C.
dc.contributor.authorOkamoto, N.
dc.contributor.authorOhashi, H.
dc.contributor.authorCoban–Akdemir, Z.
dc.contributor.authorMitani, T.
dc.contributor.authorJhangiani, S.N.
dc.contributor.authorMuzny, D.M.
dc.contributor.authorRegattieri, N.A.P.
dc.contributor.authorPogue, R.
dc.contributor.authorPereira, R.W.
dc.contributor.authorOtto, P.A.
dc.contributor.authorGibbs, R.A.
dc.contributor.authorAli, B.R.
dc.contributor.authorvan Bokhoven, H.
dc.contributor.authorBrunner, H.G.
dc.contributor.authorSutton, V.R.
dc.contributor.authorLupski, J.R.
dc.contributor.authorVianna-Morgante, A.M.
dc.contributor.authorCarvalho, C.M.B.
dc.contributor.authorMazzeu, J.F.
dc.date.accessioned2024-01-19T15:25:18Z
dc.date.available2024-01-19T15:25:18Z
dc.date.issued2022
dc.description.abstractRobinow syndrome is characterized by a triad of craniofacial dysmorphisms, disproportionate-limb short stature, and genital hypoplasia. A significant degree of phenotypic variability seems to correlate with different genes/loci. Disturbances of the noncanonical WNT-pathway have been identified as the main cause of the syndrome. Biallelic variants in ROR2 cause an autosomal recessive form of the syndrome with distinctive skeletal findings. Twenty-two patients with a clinical diagnosis of autosomal recessive Robinow syndrome were screened for variants in ROR2 using multiple molecular approaches. We identified 25 putatively pathogenic ROR2 variants, 16 novel, including single nucleotide variants and exonic deletions. Detailed phenotypic analyses revealed that all subjects presented with a prominent forehead, hypertelorism, short nose, abnormality of the nasal tip, brachydactyly, mesomelic limb shortening, short stature, and genital hypoplasia in male patients. A total of 19 clinical features were present in more than 75% of the subjects, thus pointing to an overall uniformity of the phenotype. Disease-causing variants in ROR2, contribute to a clinically recognizable autosomal recessive trait phenotype with multiple skeletal defects. A comprehensive quantitative clinical evaluation of this cohort delineated the phenotypic spectrum of ROR2-related Robinow syndrome. The identification of exonic deletion variant alleles further supports the contention of a loss-of-function mechanism in the etiology of the syndrome.
dc.fechaingreso.objetodigital2024-03-21
dc.fuente.origenORCID-ene24
dc.identifier.doi10.1002/humu.24375
dc.identifier.issn1059-7794
dc.identifier.urihttps://doi.org.10.1002/humu.24375
dc.identifier.urihttp://www.scopus.com/inward/record.url?eid=2-s2.0-85129668111&partnerID=MN8TOARS
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/80716
dc.information.autorucEscuela de Medicina; Mellado Sagredo, Cecilia Ximena Del Carmen; 0000-0002-6032-4651; 1002671
dc.issue.numero7
dc.language.isoen
dc.nota.accesoContenido completo
dc.pagina.final918
dc.pagina.inicio900
dc.revistaHuman Mutation
dc.rightsacceso abierto
dc.subject.ddc610
dc.subject.deweyMedicina y saludes_ES
dc.subject.ods03 Good health and well-being
dc.subject.odspa03 Salud y bienestar
dc.titlePhenotypic and mutational spectrum of ROR2-related Robinow syndrome
dc.typeartículo
dc.volumen43
sipa.codpersvinculados1002671
sipa.trazabilidadORCID;2024-01-08
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