Mutations in COL1A1 and COL27A1 Associated with a Pectus Excavatum Phenotype in 2 Siblings with Osteogenesis Imperfecta

Nelimar Cruz-Centeno; Jean F. Saenz-Maisonet; Paola M. López-Dones; Alberto Santiago-Cornier; Victor N. Ortiz-Justiniano

doi:10.12659/AJCR.935526

18 May 2022 : Case report Puerto Rico

Mutations in COL1A1 and COL27A1 Associated with a Pectus Excavatum Phenotype in 2 Siblings with Osteogenesis Imperfecta

Congenital defects / diseases

Nelimar Cruz-Centeno^1ADEF*, Jean F. Saenz-Maisonet^2CDEF, Paola M. López-Dones^3DEF, Alberto Santiago-Cornier^4ABCD, Victor N. Ortiz-Justiniano^5ADE

DOI: 10.12659/AJCR.935526

Am J Case Rep 2022; 23:e935526

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Table 2. Invitae skeletal disorders panel results.

Gene	Genetic variant	Zygosity
COL1A1	Gain (exons 2–51)	Copy number=3
COL27A1	c.2089G>C (p.Gly697Arg)	Heterozygous

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Mutations in COL1A1 and COL27A1 Associated with a Pectus Excavatum Phenotype in 2 Siblings with Osteogenesis Imperfecta

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