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Article

Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta.

American journal of human genetics - 5 Mar 2015

Garbes Lutz, Kim Kyungho, Rieß Angelika, Hoyer-Kuhn Heike, Beleggia Filippo, Bevot Andrea, Kim Mi Jeong, Huh Yang Hoon, Kweon Hee-Seok, Savarirayan Ravi, Amor David, Kakadia Purvi M, Lindig Tobias, Kagan Karl Oliver, Becker Jutta, Boyadjiev Simeon A, Wollnik Bernd, Semler Oliver, Bohlander Stefan K, Kim Jinoh, Netzer Christian

Abstract excerpt

As a result of a whole-exome sequencing study, we report three mutant alleles in SEC24D, a gene encoding a component of the COPII complex involved in protein export from the ER: the truncating mutation c.613C>T (p.Gln205(∗)) and the missense mutations c.3044C>T (p.Ser1015Phe, located in a cargo-binding pocket) and c.2933A>C (p.Gln978Pro, located in the gelsolin-like domain). Three individuals from two families...

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Identifiers

PMID: 25683121
DOI: 10.1016/j.ajhg.2015.01.002
PMCID: PMC4375534

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta.PMID 25683121Read ↗

Elucidating the impact of a synonymous SEC24D variant on aberrant splicing in a patient with cole-carpenter syndrome 2.Semantic proximity Read ↗

Secretory COPII coat component Sec23a is essential for craniofacial chondrocyte maturation.Semantic proximity Read ↗

Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking.Semantic proximity Read ↗

Novel mutations in the SEC24D gene in Chinese families with autosomal recessive osteogenesis imperfecta.Semantic proximity Read ↗

The feelgood mutation in zebrafish dysregulates COPII-dependent secretion of select extracellular matrix proteins in skeletal morphogenesis.Semantic proximity Read ↗

Sec24D-Dependent Transport of Extracellular Matrix Proteins Is Required for Zebrafish Skeletal MorphogenesisSemantic proximity Read ↗

The genetic basis of a craniofacial disease provides insight into COPII coat assembly.Semantic proximity Read ↗

Collagen has a unique SEC24 preference for efficient export from the endoplasmic reticulum.Semantic proximity Read ↗

Collagen has a unique SEC24 preference for efficient export from the endoplasmic reticulumSemantic proximity Read ↗

ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.Semantic proximity Read ↗

Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.Semantic proximity Read ↗

Sec23IP recruits the Cohen syndrome factor VPS13B/COH1 to ER exit site-Golgi interface for tubular ERGIC formationSemantic proximity Read ↗

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