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First reported case of Steel syndrome in the European population: A novel homozygous mutation in COL27A1 and review of the literature.
Evie Kritioti, Athina Theodosiou, Nayia Nicolaou, Angelos Alexandrou, Ioannis Papaevripidou, Elisavet Efstathiou, Violetta Christophidou-Anastasiadou, Carolina Sismani, Tanteles GA. Evie Kritioti, et al. Eur J Med Genet. 2020 Jul;63(7):103939. doi: 10.1016/j.ejmg.2020.103939. Epub 2020 Apr 30. Eur J Med Genet. 2020. PMID: 32360765 Free article. Review.
Sixteen individuals with Steel syndrome, mainly Puerto Ricans (11/16), were previously reported to carry bi-allelic mutations in the COL27A1 gene. Here, we present the first patient with Steel syndrome in Europe and the sixth non-Puerto Rican carrying a novel homozygous mu …
Sixteen individuals with Steel syndrome, mainly Puerto Ricans (11/16), were previously reported to carry bi-allelic mutations in the COL2 …
Mutations in COL1A1 and COL27A1 Associated with a Pectus Excavatum Phenotype in 2 Siblings with Osteogenesis Imperfecta.
Cruz-Centeno N, Saenz-Maisonet JF, López-Dones PM, Santiago-Cornier A, Ortiz-Justiniano VN. Cruz-Centeno N, et al. Am J Case Rep. 2022 May 18;23:e935526. doi: 10.12659/AJCR.935526. Am J Case Rep. 2022. PMID: 35581901 Free PMC article.
Additionally, both had a heterozygous pathogenic variant in exon 7 of gene COL27A1 (replacement of a glycine with arginine in codon 697 of the protein). ...Heterozygous carriers of the p.Gly697Arg variant in COL27A1 have not been described to have a phenotype with c …
Additionally, both had a heterozygous pathogenic variant in exon 7 of gene COL27A1 (replacement of a glycine with arginine in codon 6 …
Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.
Gonzaga-Jauregui C, Gamble CN, Yuan B, Penney S, Jhangiani S, Muzny DM, Gibbs RA, Lupski JR, Hecht JT. Gonzaga-Jauregui C, et al. Eur J Hum Genet. 2015 Mar;23(3):342-6. doi: 10.1038/ejhg.2014.107. Epub 2014 Jul 2. Eur J Hum Genet. 2015. PMID: 24986830 Free PMC article.
Osteochondrodysplasias represent a large group of developmental structural disorders that can be caused by mutations in a variety of genes responsible for chondrocyte development, differentiation, mineralization and early ossification. ...We identified a homozygous missens …
Osteochondrodysplasias represent a large group of developmental structural disorders that can be caused by mutations in a variety of …
Histopathology of recurrent Steel syndrome in fetuses caused by novel variants of COL27A1 gene.
Frigola G, Del Rincón OG, Florián VB, Fita AV, Campos B, Pauta M, Puimedon MS, Oliva R, Borrell A, Nadal A. Frigola G, et al. Virchows Arch. 2021 Aug;479(2):413-418. doi: 10.1007/s00428-020-02979-2. Epub 2021 Jan 7. Virchows Arch. 2021. PMID: 33411029
Resting cartilage was hypercellular, organized in irregular nests limited by acellular matrix. Two variants in COL27A1 (c.2548G>A -p.Gly850Arg- and c.3249+1G> T) were found in both fetuses in compound heterozygosity with parental Mendelian segregation. This is the fi …
Resting cartilage was hypercellular, organized in irregular nests limited by acellular matrix. Two variants in COL27A1 (c.2548G>A …
A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye.
Pölsler L, Schatz UA, Simma B, Zschocke J, Rudnik-Schöneborn S. Pölsler L, et al. Am J Med Genet A. 2020 Apr;182(4):730-734. doi: 10.1002/ajmg.a.61478. Epub 2020 Jan 8. Am J Med Genet A. 2020. PMID: 31913554 Free PMC article.
Whole exome sequencing identified two pathogenic compound heterozygous variants in COL27A1: c.93del, p.(Phe32Leufs*71) and c.3075del, p.(Lys1026Argfs*33). ...Our findings might indicate an association of this exceptionally rare disorder caused by COL27A1 mutations w …
Whole exome sequencing identified two pathogenic compound heterozygous variants in COL27A1: c.93del, p.(Phe32Leufs*71) and c.3075del, …
Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide.
Gonzaga-Jauregui C, Yesil G, Nistala H, Gezdirici A, Bayram Y, Nannuru KC, Pehlivan D, Yuan B, Jimenez J, Sahin Y, Paine IS, Akdemir ZC, Rajamani S, Staples J, Dronzek J, Howell K, Fatih JM, Smaldone S, Schlesinger AE, Ramírez N, Cornier AS, Kelly MA, Haber R, Chim SM, Nieman K, Wu N, Walls J; Baylor-Hopkins Center for Mendelian Genetics, Regeneron Genetics Center; Poueymirou W, Siao CJ, Sutton VR, Williams MS, Posey JE, Gibbs RA, Carlo S, Tegay DH, Economides AN, Lupski JR. Gonzaga-Jauregui C, et al. Eur J Hum Genet. 2020 Sep;28(9):1243-1264. doi: 10.1038/s41431-020-0632-x. Epub 2020 May 6. Eur J Hum Genet. 2020. PMID: 32376988 Free PMC article.
Previously we reported the identification of a homozygous COL27A1 (c.2089G>C; p.Gly697Arg) missense variant and proposed it as a founder allele in Puerto Rico segregating with Steel syndrome (STLS, MIM #615155); a rare osteochondrodysplasia characterized by short …
Previously we reported the identification of a homozygous COL27A1 (c.2089G>C; p.Gly697Arg) missense variant and proposed it as a f …