Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide.

doi:10.1038/s41431-020-0632-x

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Article

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide.

European journal of human genetics : EJHG - 1 Sept 2020

Gonzaga-Jauregui Claudia, Yesil Gozde, Nistala Harikiran, Gezdirici Alper, Bayram Yavuz, Nannuru Kalyan C, Pehlivan Davut, Yuan Bo, Jimenez Johanna, Sahin Yavuz, Paine Ingrid S, Akdemir Zeynep Coban, Rajamani Saathyaki, Staples Jeffrey, Dronzek John, Howell Kristen, Fatih Jawid M, Smaldone Silvia, Schlesinger Alan E, Ramírez Norman, Cornier Alberto S, Kelly Melissa A, Haber Robert, Chim Shek Man, Nieman Kristy, Wu Nan, Walls Johnathon, Poueymirou William, Siao Chia-Jen, Sutton V Reid, Williams Marc S, Posey Jennifer E, Gibbs Richard A, Carlo Simon, Tegay David H, Economides Aris N, Lupski James R

Abstract excerpt

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 stature, congenital bilateral hip dysplasia, carpal coalitions, and scoliosis. We now report segregation of this variant in five probands from the...

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PMID: 32376988
DOI: 10.1038/s41431-020-0632-x
PMCID: PMC7608441

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