Cited by 176Connective tissue disorders researchDermatological and Skeletal DisordersGenomics and Rare Diseases

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Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome

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Blackburn, Patrick R., Xu, Zhi, Tumelty, Kathleen E., Zhao, Rose W., Monis, William J., Harris, Kimberly G., Gass, Jennifer M., Cousin, Margot A., Boczek, Nicole J., Mitkov, Mario V., Cappel, Mark A., Francomano, Clair A., Parisi, Joseph E., Klee, Eric W., Faqeih, Eissa, Alkuraya, Fowzan S., Layne, Matthew D., McDonnell, Nazli B., Atwal, Paldeep S.·2018·The American Journal of Human Genetics

DOI 10.1016/j.ajhg.2018.02.018PMC PMC5985336

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Abstract

AEBP1 encodes the aortic carboxypeptidase-like protein (ACLP) that associates with collagens in the extracellular matrix (ECM) and has several roles in development, tissue repair, and fibrosis. ACLP is expressed in bone, the vasculature, and dermal tissues and is involved in fibroblast proliferation and mesenchymal stem cell differentiation into collagen-producing cells. Aebp1-/- mice have abnormal, delayed wound repair correlating with defects in fibroblast proliferation. In this study, we describe four individuals from three unrelated families that presented with a unique constellation of clinical findings including joint laxity, redundant and hyperextensible skin, poor wound healing with abnormal scarring, osteoporosis, and other features reminiscent of Ehlers-Danlos syndrome (EDS). Analysis of skin biopsies revealed decreased dermal collagen with abnormal collagen fibrils that were ragged in appearance. Exome sequencing revealed compound heterozygous variants in AEBP1 (c.1470delC [p.Asn490_Met495delins(40)] and c.1743C>A [p.Cys581∗]) in the first individual, a homozygous variant (c.1320_1326del [p.Arg440Serfs∗3]) in the second individual, and a homozygous splice site variant (c.1630+1G>A) in two siblings from the third family. We show that ACLP enhances collagen polymerization and binds to several fibrillar collagens via its discoidin domain. These studies support the conclusion that bi-allelic pathogenic variants in AEBP1 are the cause of this autosomal-recessive EDS subtype.

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Background
Silencing of adipocyte enhancer-binding protein 1 (AEBP1) alleviates renal fibrosis in vivo and in vitro via inhibition of the β-catenin signaling pathway
Liu, N., Liu, D., Cao, S., & Lei, J. (2023) · Human Cell · doi:10.1007/s13577-023-00859-w · Cited by 16
“Furthermore, AEBP1 as a collagen-binding ECM protein that promotes collagen expression and polymerization [10, 11].”
Background
Ehlers-Danlos Syndromes, Joint Hypermobility and Hypermobility Spectrum Disorders
Micale, L., Fusco, C., & Castori, M. (2021) · Advances in experimental medicine and biology · doi:10.1007/978-3-030-80614-9_9 · Cited by 17
Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants
Angwin, C., Ghali, N., & van Dijk, F. S. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2023.1148224 · Cited by 12
“There are currently nine reported cases of clEDS as a result of variants in AEBP1 (Alazami et al., 2016; Blackburn et al., 2018; Hebebrand et al., 2019; Ritelli et al., 2019; Syx et al., 2019).”
BackgroundInfluential
Case report: further delineation of AEBP1-related Ehlers–Danlos Syndrome (classical-like EDS type 2) in an additional patient and comprehensive clinical and molecular review of the literature
Yamaguchi, T., Hayashi, S., Nagai, S., et al. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2023.1102101 · Cited by 12
“In Patient 3, a 1-bp deletion (c.1470del) in exon 12 in one allele led to the retention of intron 12 (p.Asn490_ Met495delinsLysAlaMetArgLysTrpTrpAlaProCysProGlySerTrp LeuCysSerHisCysLeuGlyGluGlyTrpAlaLeuArgGlyAlaGlySer ThrAlaLeuArgProAlaSerProGln) (Blackburn et al., 2018).”
Background
The Ehlers–Danlos Syndromes against the Backdrop of Inborn Errors of Metabolism
Damme, T. V., Colman, M., Syx, D., & Malfait, F. (2022) · Genes · doi:10.3390/genes13020265 · Cited by 15
“AEBP1 codes for adipocyte enhancer-binding protein 1 (AEBP1; also known as aortic carboxypeptidase-like protein, ACLP) [64].”
Background
Management of childbearing with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders: A scoping review and expert co-creation of evidence-based clinical guidelines
Pezaro, S., Brock, I., Buckley, M., Callaway, S., Demirdas, S., Hakim, A. J., Harris, C. L., Gross, C. H., Karanfil, M., Ray, I. L., et al. (2024) · PLoS ONE · doi:10.1371/journal.pone.0302401 · Cited by 12
Dermatologic manifestations and diagnostic assessments of the Ehlers-Danlos syndromes: A clinical review
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Ehlers-Danlos syndromes: importance of defining the type
van Dijk, F. S., Ghali, N., & Chandratheva, A. (2023) · Practical Neurology · doi:10.1136/pn-2023-003703 · Cited by 12
“8 The genetic cause of the fourteenth type of EDS was reported later 9 10 (see table 1).”
Background
Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers–Danlos Syndrome
Stock, F., Hanisch, M. R., Lechner, S., Biskup, S., Bohring, A., Zschocke, J., & Kapferer‐Seebacher, I. (2021) · Biomolecules · doi:10.3390/biom11020149 · Cited by 11
Barriers to the Diagnosis, Care, and Management of Pediatric Patients With Ehlers-Danlos Syndrome in the United States: A Qualitative Analysis
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Arterial complications in classical Ehlers-Danlos syndrome: a case series
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Independent COL5A1 Variants in Cats with Ehlers-Danlos Syndrome
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Congenital Defects in a Patient Carrying a Novel Homozygous AEBP1 Variant: Further Expansion of the Phenotypic Spectrum of Ehlers–Danlos Syndrome Classical-like Type 2?
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“At a functional level, ACLP has been demonstrated to bind collagen type I, type III, and type V [4] and to enhance the stiffness, toughness, and tensile strength of COL1 fibers in vitro [9].”
BackgroundResultInfluential
TWIST1 drives endothelial-to-mesenchymal-transition to stabilize atherosclerotic plaques
Ayllón, B. T., Diagbouga, M. R., Das, A., Tian, S., Edsfeldt, A., Kalucka, J. M., Serbanovic‐Canic, J., Chambers, E. V., Sun, J., Gialeli, C., et al. (2026) · Nature Communications · doi:10.1038/s41467-026-69808-z · Cited by 10
“AEBP1 acts as a central regulator of collagen, with mutations in the AEBP1 gene linked to defective collagen assembly in Ehlers-Danlos syndrome 22 .”
Autism in the context of joint hypermobility, hypermobility spectrum disorders, and Ehlers–Danlos syndromes: A systematic review and prevalence meta-analyses
Baeza-Velasco, C., Vergne, J., Poli, M., Kalisch, L., & Calati, R. (2025) · Autism · doi:10.1177/13623613251328059 · Cited by 16
“There are 14 subtypes of EDS currently described (Blackburn et al., 2018; Malfait et al., 2017).”
Longitudinal analysis of symptoms in the Ehlers‐Danlos syndromes
Schubart, J. R., Mills, S. E., Schaefer, É., Bascom, R., & Francomano, C. A. (2022) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62640 · Cited by 10
“The Ehlers-Danlos syndromes (EDS) are a group of 14 heritable disorders of connective tissue (HDCT) characterized by joint laxity and skin involvement (Blackburn et al., 2018; Malfait et al., 2017; Rodgers et al., 2017).”
BackgroundSelf-citation
Circadian rhythms and the light‐dark cycle interact to regulate amyloid‐beta plaque accumulation and tau phosphorylation in 5xFAD mice
King, M. W., Jacob, S. M., Sharma, A., Lawrence, J. H., & Musiek, E. S. (2025) · Alzheimer s & Dementia · doi:10.1002/alz.70885 · Cited by 13
“48,49”
AEBP1 or ACLP, which is the key factor in inflammation and fibrosis?
Runtian, Z., Wenqiang, H., Zimeng, S., Tianyu, W., & Jingquan, Z. (2025) · International Journal of Biological Macromolecules · doi:10.1016/j.ijbiomac.2025.143554 · Cited by 9
Proteomic profiling of human plasma and intervertebral disc tissue reveals matrisomal, but not plasma, biomarkers of disc degeneration
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Spontaneous uterine rupture revealing vascular Ehlers-Danlos syndrome
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Community-based network analyses reveal emerging connectivity patterns of protein-protein interactions in murine melanoma secretome
Francisquini, R., Berton, R., Soares, S. G., Gonçalves, D. S. P. O., Camacho, M. F., Andrade-Silva, D., Barcick, U., Serrano, S. M. T., Chammas, R. J., Nascimento, M. C. V., et al. (2020) · Journal of Proteomics · doi:10.1016/j.jprot.2020.104063 · Cited by 8
Adipocyte enhancer binding protein 1 knockdown alleviates osteoarthritis through inhibiting NF‐κB signaling pathway‐mediated inflammation and extracellular matrix degradation
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“17 All these previous studies indicated that AEBP1 was closely related to cellular inflammation and the formation of the extracellular matrix.”
Background
A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1‐related overlap disorder
Foy, M., de Mazancourt, P., Métay, C., Carlier, R., Allamand, V., Gartioux, C., Gillas, F., Miri, N., Jobic, V., Mekki, A., et al. (2021) · Clinical Case Reports · doi:10.1002/ccr3.4128 · Cited by 7
AEBP1 is a negative regulator of skeletal muscle cell differentiation in oral squamous cell carcinoma
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“Bi-allelic Bi-allelic loss-of-function mutations in AEBP1 cause defective collagen assembly, leading to connective tissue abnormalities characteristic of EDS 18,20 .”
Identification of disease-related genes and construction of a gene co-expression database in non-alcoholic fatty liver disease
Ye, H., Sun, M., Su, M., Chen, D., Liu, H., Ma, Y., Luo, W., Li, H., & Xu, F. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2023.1070605 · Cited by 9
“In our analysis, M25 indeed is associated with fibrosis, and Aebp1 is highly correlated with ECM genes Col1a1, Col1a2, Col3a1, Col4a1, Col4a2, Col5a1, Col6a3, And Col14a1 (Figure 8A).”
Background
Growth failure in aggrecan deficiency is due to decreased extracellular matrix and impaired growth plate chondrocyte hypertrophy
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Gastrointestinal medication burden among persons with the Ehlers‐Danlos syndromes
Dhingra, R., Bascom, R., Thompson, E., Francomano, C. A., & Schubart, J. R. (2021) · Neurogastroenterology & Motility · doi:10.1111/nmo.14077 · Cited by 7
Self-citation
Clinical and Molecular Characterization of a Novel Homozygous Frameshift Variant in AEBP1-Related Classical-like Ehlers Danlos Syndrome Type 2 with Comparison to Previously Reported Rare Cases
Ha, Z. Y., Chijiwa, C., & Lewis, M. E. S. (2024) · Genes · doi:10.3390/genes15040461 · Cited by 6
“In Patient 3, a 1-bp deletion, c.1470del, in exon 12 led to the retention of intron 12 [6], which resulted in the peptide product being retained intracellularly and not secreted [7].”
Influential
Gonosomal Mosaicism for a Novel COL5A1 Pathogenic Variant in Classic Ehlers-Danlos Syndrome
Micale, L., Foiadelli, T., Russo, F., Cinque, L., Bassanese, F., Granatiero, M., Fusco, C., Savasta, S., & Castori, M. (2021) · Genes · doi:10.3390/genes12121928 · Cited by 6
“Recent studies have described another genetically distinct classic-like EDS type caused by biallelic deleterious variants in the AEPB1 gene [2], while additional cases have allowed to reclassify the so-called osteogenesis imperfecta/EDS overlap in COL1-related overlap disorder [1].”
Background
Aortic carboxypeptidase‐like protein, a putative myokine, stimulates the differentiation and survival of bone‐forming osteoblasts
Kim, H., Kim, M. J., Moon, S. A., Cho, H. J., Lee, Y., Park, S. J., Kim, Y., Baek, I., Kim, B., Lee, S. H., et al. (2023) · The FASEB Journal · doi:10.1096/fj.202300140r · Cited by 6
Ventral body wall closure: Mechanistic insights from mouse models and translation to human pathology
Formstone, C. J., Aldeiri, B., Davenport, M., & Francis‐West, P. H. (2024) · Developmental Dynamics · doi:10.1002/dvdy.735 · Cited by 7
“318,319”
The detailed obstetric course of the first Japanese patient with AEBP1 ‐related Ehlers–Danlos syndrome (classical‐like EDS , type 2)
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“The AEBP1 gene is ubiquitously expressed and encodes the secreted aortic carboxypeptidase-like protein (ACLP) that can bind fibrillar collagens and assist in collagen polymerization.(7) The ACLP stimulates myofibroblast differentiation and is mainly expressed in collagen-rich tissues, including the dermis, vasculature…”
Background
Unraveling the matrisome signatures of quiescent and activated muscle stem cells
Guillon, E., Bacar, H., Gilquin, L., Sasaki, T., Mourikis, P., & Ruggiero, F. (2025) · Stem Cell Reports · doi:10.1016/j.stemcr.2025.102635 · Cited by 6
Features of heritable disorders of connective tissue in children with acute rheumatic fever and rheumatic heart disease
Boyarchuk, O. R. (2020) · Reumatologia/Rheumatology · doi:10.5114/reum.2020.93509 · Cited by 5
“Special attention was paid to clinical signs of HDCT [3, 5].”
Background
Cux1+ proliferative basal cells promote epidermal hyperplasia in chronic dry skin disease identified by single-cell RNA transcriptomics
Huang, M., Hua, N., Zhuang, S., Fang, Q., Shang, J., Wang, Z., Tao, X., Niu, J., Li, X., Yu, P., et al. (2023) · Journal of Pharmaceutical Analysis · doi:10.1016/j.jpha.2023.04.004 · Cited by 5
More Genes for Thoracic Aortic Aneurysms and Dissections
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“The predicted regulators of the final stage included TFs associated with inflammatory response: Cebpd, Egr1; osteogenesis: Sp7, Cbfb (Lien et al. 2007), and tendon development: Klf10 (McConnell and Yang 2010), Klf2, Klf4, Aebp1 (Blackburn et al. 2018), Ddit3 (Caterson and Melrose 2018), and Bhlhe40 (Peffers et al. 201…”
Haploinsufficiency of Col5a1 causes intrinsic lung and respiratory changes in a mouse model of classical Ehlers‐Danlos syndrome
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“The 2017 international Ehlers- Danlos syndrome classification describes 13 different types of EDS and a fourteenth rare subtype has recently been identified (Blackburn et al., 2018; Malfait et al., 2017).”
Background
A clinical update on hypermobile Ehlers-Danlos syndrome during pregnancy, birth and beyond
Pezaro, S., Pearce, G., & Reinhold, E. J. (2021) · British Journal of Midwifery · doi:10.12968/bjom.2021.29.9.492 · Cited by 5
Ocular manifestations in Ehlers-Danlos syndrome
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Authors: Blackburn, P. R., Xu, Z., Tumelty, K. E., Zhao, R. W., Monis, W. J., Harris, K. G., Gass, J. M., Cousin, M. A., Boczek, N. J., Mitkov, M. V., Cappel, M. A., Francomano, C. A., Parisi, J. E., Klee, E. W., Faqeih, E., Alkuraya, F. S., Layne, M. D., McDonnell, N. B., & Atwal, P. S.
Affiliations: Mayo Clinic (US)
Boston University (US)
Greater Baltimore Medical Center (US)
King Fahd Medical City (SA)
King Abdulaziz City for Science and Technology (SA)
National Institutes of Health (US)
Corresponding author: McDonnell, Nazli B.
Atwal, Paldeep S.
ORCID: Blackburn, Patrick R.
Monis, William J.
Gass, Jennifer M.
Cousin, Margot A.
Boczek, Nicole J.
Mitkov, Mario V.
Cappel, Mark A.
Francomano, Clair A.
Parisi, Joseph E.
Klee, Eric W.
Faqeih, Eissa
Alkuraya, Fowzan S.
Layne, Matthew D.
Atwal, Paldeep S.
Venue: The American Journal of Human Genetics
Publisher: Elsevier BV
Published: 2018-04
Volume: 102
Issue: 4
Pages: 696-705
ISSN: 0002-9297 (ISSN-L)
DOI: 10.1016/j.ajhg.2018.02.018
PMC: PMC5985336
OpenAlex: W2795052789
Cited by: 176
References: 33
Citations by year: 2026: 13 · 2025: 30 · 2024: 25 · 2023: 26 · 2022: 14 · 2021: 20 · 2020: 23 · 2019: 24 · 2018: 1
FWCI: 10.26
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 187 d)
Locations: The American Journal of Human Genetics (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
King Abdullah University of Science and Technology Repository (King Abdullah University of Science and Technology) (submittedVersion)
Funders: American Heart Association (14GRNT18690001)
National Institutes of Health (HL078869S1, HL078869)
National Institute on Aging (03-AG-N330, 2003-086, 11-AG-N079)
Boston University
Mayo Clinic
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Dermatological and Skeletal Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords: AEBP1, Ehlers-Danlos syndrome, collagen self-assembly, collagen fibrils, connective tissue diseases, compound heterozygosity, splice site mutation, discoidin domain, collagen polymerization, wound healing, joint laxity, skin collagen, fibroblast proliferation
MeSH terms: Protein Domains, Adult, Alleles, Amino Acid Sequence, Carboxypeptidases, Child, Child, Preschool, Collagen, Connective Tissue, Ehlers-Danlos Syndrome, Female, Fibroblasts, Humans, Male, Mutation, Repressor Proteins, RNA, Messenger, Skin, Young Adult

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Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome

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