A child with a novel ACAN missense variant mimicking a septic arthritis

doi:10.1186/s13052-019-0719-6

Case Reports

. 2019 Nov 20;45(1):148.

doi: 10.1186/s13052-019-0719-6.

A child with a novel ACAN missense variant mimicking a septic arthritis

Angelo Florio¹, Riccardo Papa², Roberta Caorsi¹, Alessandro Consolaro¹, Roberto Gastaldi³, Marco Gattorno¹, Paolo Picco¹

Affiliations

¹ Pediatric Rheumatology Clinic, IRCCS Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16147, Genova, Italy.
² Pediatric Rheumatology Clinic, IRCCS Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16147, Genova, Italy. grafomai@hotmail.it.
³ Pediatric Endocrinology Clinic, IRCCS Istituto Giannina Gaslini, Genova, Italy.

PMID: 31747937
PMCID: PMC6868685
DOI: 10.1186/s13052-019-0719-6

Case Reports

A child with a novel ACAN missense variant mimicking a septic arthritis

Angelo Florio et al. Ital J Pediatr. 2019.

. 2019 Nov 20;45(1):148.

doi: 10.1186/s13052-019-0719-6.

Authors

Angelo Florio¹, Riccardo Papa², Roberta Caorsi¹, Alessandro Consolaro¹, Roberto Gastaldi³, Marco Gattorno¹, Paolo Picco¹

Affiliations

¹ Pediatric Rheumatology Clinic, IRCCS Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16147, Genova, Italy.
² Pediatric Rheumatology Clinic, IRCCS Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16147, Genova, Italy. grafomai@hotmail.it.
³ Pediatric Endocrinology Clinic, IRCCS Istituto Giannina Gaslini, Genova, Italy.

PMID: 31747937
PMCID: PMC6868685
DOI: 10.1186/s13052-019-0719-6

Abstract

Heterozygous mutations of the ACAN gene have been associated with a broad spectrum of non-lethal skeletal dysplasias, called Aggrecanopathies. We report a case of a child with severe inflammatory elbow involvement mimicking septic arthritis who carried the new ACAN missense variant c.6970 T > C, p.Trp2324Arg. The comprehensive clinical evaluation of the patient and his family, focused on the associated clinical features (facial dysmorphisms, short stature, brachydactily), led us to suspect a hereditary condition. Our findings suggest that Aggrecanopathies should be considered in children with familial short stature, poor growth spurt and joint involvement.

Keywords: ACAN; Aggrecanopathy; Arthritis; Osteochondritis dissecans; Pediatric rheumatology.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

**Fig. 1**
Main features of our patient. Sagittal T2-weighted MRI of the right elbow shows joint distention, synovial thickening, and spongious edema of the humeral condyle with nidus (a, arrow tip). X-ray of the left hand shows bone age delay of 2 years with 4th metacarpal bone brachydactyly (b, arrow tip). CDC growth chart of the patient (c, T = target height). Family pedigree (d)

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Cited by

Description of the molecular and phenotypic spectrum in Chinese patients with aggrecan deficiency: Novel ACAN heterozygous variants in eight Chinese children and a review of the literature.
Deng S, Hou L, Xia D, Li X, Peng X, Xiao X, Zhang J, Meng Z, Zhang L, Ouyang N, Liang L. Deng S, et al. Front Endocrinol (Lausanne). 2022 Oct 28;13:1015954. doi: 10.3389/fendo.2022.1015954. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36387899 Free PMC article. Review.
Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan.
Stattin EL, Lindblom K, Struglics A, Önnerfjord P, Goldblatt J, Dixit A, Sarkar A, Randell T, Suri M, Raggio C, Davis J, Carter E, Aspberg A. Stattin EL, et al. Sci Rep. 2022 Mar 25;12(1):5215. doi: 10.1038/s41598-022-09211-y. Sci Rep. 2022. PMID: 35338222 Free PMC article.
Identification of novel ACAN mutations in two Chinese families and genotype-phenotype correlation in patients with 74 pathogenic ACAN variations.
Wei M, Ying Y, Li Z, Weng Y, Luo X. Wei M, et al. Mol Genet Genomic Med. 2021 Nov;9(11):e1823. doi: 10.1002/mgg3.1823. Epub 2021 Oct 3. Mol Genet Genomic Med. 2021. PMID: 34605228 Free PMC article.

References

1. Lauing KL, Cortes M, Domowicz MS, et al. Aggrecan is required for growth plate cytoarchitecture and differentiation. Dev Biol. 2014;396:224–236. doi: 10.1016/j.ydbio.2014.10.005. - DOI - PMC - PubMed
1. Tompson SW, Merriman B, Funari VA, et al. A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the Ctypelectin domain of aggrecan. Am J Hum Genet. 2009;84:72–79. doi: 10.1016/j.ajhg.2008.12.001. - DOI - PMC - PubMed
1. Gleghorn L, Ramesar R, Beighton P, Wallis G. A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis. Am J Hum Genet. 2005;77:484–490. doi: 10.1086/444401. - DOI - PMC - PubMed
1. Stattin EL, Wiklund F, Lindblom K, et al. A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans. Am J Hum Genet. 2010;86:126–137. doi: 10.1016/j.ajhg.2009.12.018. - DOI - PMC - PubMed
1. Nilsson O, Guo MH, Dunbar N, et al. Short stature, accelerated bonematuration, and early growth cessation due to heterozygous aggrecan mutations. J Clin Endocrinol Metab. 2014;99:E1510–E1518. doi: 10.1210/jc.2014-1332. - DOI - PMC - PubMed

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[1] Lauing KL, Cortes M, Domowicz MS, et al. Aggrecan is required for growth plate cytoarchitecture and differentiation. Dev Biol. 2014;396:224–236. doi: 10.1016/j.ydbio.2014.10.005. - DOI - PMC - PubMed

[2] Lauing KL, Cortes M, Domowicz MS, et al. Aggrecan is required for growth plate cytoarchitecture and differentiation. Dev Biol. 2014;396:224–236. doi: 10.1016/j.ydbio.2014.10.005. - DOI - PMC - PubMed

[3] Tompson SW, Merriman B, Funari VA, et al. A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the Ctypelectin domain of aggrecan. Am J Hum Genet. 2009;84:72–79. doi: 10.1016/j.ajhg.2008.12.001. - DOI - PMC - PubMed

[4] Tompson SW, Merriman B, Funari VA, et al. A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the Ctypelectin domain of aggrecan. Am J Hum Genet. 2009;84:72–79. doi: 10.1016/j.ajhg.2008.12.001. - DOI - PMC - PubMed

[5] Gleghorn L, Ramesar R, Beighton P, Wallis G. A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis. Am J Hum Genet. 2005;77:484–490. doi: 10.1086/444401. - DOI - PMC - PubMed

[6] Gleghorn L, Ramesar R, Beighton P, Wallis G. A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis. Am J Hum Genet. 2005;77:484–490. doi: 10.1086/444401. - DOI - PMC - PubMed

[7] Stattin EL, Wiklund F, Lindblom K, et al. A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans. Am J Hum Genet. 2010;86:126–137. doi: 10.1016/j.ajhg.2009.12.018. - DOI - PMC - PubMed

[8] Stattin EL, Wiklund F, Lindblom K, et al. A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans. Am J Hum Genet. 2010;86:126–137. doi: 10.1016/j.ajhg.2009.12.018. - DOI - PMC - PubMed

[9] Nilsson O, Guo MH, Dunbar N, et al. Short stature, accelerated bonematuration, and early growth cessation due to heterozygous aggrecan mutations. J Clin Endocrinol Metab. 2014;99:E1510–E1518. doi: 10.1210/jc.2014-1332. - DOI - PMC - PubMed

[10] Nilsson O, Guo MH, Dunbar N, et al. Short stature, accelerated bonematuration, and early growth cessation due to heterozygous aggrecan mutations. J Clin Endocrinol Metab. 2014;99:E1510–E1518. doi: 10.1210/jc.2014-1332. - DOI - PMC - PubMed

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A child with a novel ACAN missense variant mimicking a septic arthritis

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A child with a novel ACAN missense variant mimicking a septic arthritis

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