Osteogenesis Imperfecta Type 4 With COL1A2 c.1135G>A (p.Gly379Arg) Variant: Unmodified by Concurrent ALPL c.1559delT (p.Leu520ArgfsTer86) Carrier Status: A Case Report

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The ALPL c.1559delT carrier state does not significantly modify the clinical phenotype of Osteogenesis Imperfecta. Novelty: ClaimNovelty.INCREMENTAL. Consensus alignment: ConsensusAlignment.NEUTRAL.

Kento Nomura; Yoichiro Oda; Shuhei Yamaguchi; Tomoyuki Ito; Yoshiyuki Namai

doi:10.7759/cureus.108052

April 30, 2026CureusOpen Access

Osteogenesis Imperfecta Type 4 With COL1A2 c.1135G>A (p.Gly379Arg) Variant: Unmodified by Concurrent ALPL c.1559delT (p.Leu520ArgfsTer86) Carrier Status: A Case Report

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c.1559delT carrier state may not significantly modify the phenotype of OI.

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Nomura et al. (2026) studied this question.

synapsesocial.com/papers/6a2701126b66951f6099239f https://doi.org/10.7759/cureus.108052

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Osteogenesis Imperfecta Type 4 With COL1A2 c.1135G>A (p.Gly379Arg) Variant: Unmodified by Concurrent ALPL c.1559delT (p.Leu520ArgfsTer86) Carrier Status: A Case Report

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Osteogenesis Imperfecta Type 4 With COL1A2 c.1135G>A (p.Gly379Arg) Variant: Unmodified by Concurrent ALPL c.1559delT (p.Leu520ArgfsTer86) Carrier Status: A Case Report

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