Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2021 Jun 29;21(1):459.
doi: 10.1186/s12884-021-03952-w.

Prenatal diagnosis of a novel pathogenic variation in the ACAN gene presenting with isolated shortening of fetal long bones in the second trimester of gestation: a case report

Paolo Toscano  1   2 , Lavinia Di Meglio  3   4 , Fortunato Lonardo  5 , Letizia Di Meglio  2 , Laura Letizia Mazzarelli  1   2 , Carmine Sica  2 , Aniello Di Meglio  2
Affiliations
Case Reports

Prenatal diagnosis of a novel pathogenic variation in the ACAN gene presenting with isolated shortening of fetal long bones in the second trimester of gestation: a case report

Paolo Toscano et al. BMC Pregnancy Childbirth. .

Abstract

Background: Heterozygous mutations of the ACAN gene are a major cause of different evolutive growth defects in the pediatric population, but were never described as a cause of fetal skeletal dysplasia.

Case presentation: A G1 at 21w + 3d came to our institution for the second-trimester ultrasound and a skeletal dysplasia with prevalent involvement of limb's rhizomelic tracts was suspected. Amniocentesis followed by CGH-array was performed, with normal results. An examination by NGS of some genes associated with skeletal dysplasias showed a novel pathogenic variant of the ACAN gene: c.2677delG.

Conclusion: Sequence variations of ACAN were never described as a possible cause of fetal skeletal anomalies to date. In this case report, we describe the first prenatal diagnosis of skeletal dysplasia associated with a pathogenic variant of ACAN.

Keywords: ACAN; Aggrecan; Case report; Prenatal diagnosis; Skeletal dysplasia.

PubMed Disclaimer

Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Fetal estimated body weight. Fetal esitimaed body weight under the 5°centile
Fig. 2
Fig. 2
Ultrasounds skeletal findings. A. Femur and tibia< 5° centile B. Prominence of the forehead with mild nasal hypoplasia. C. Homerus 5° centile
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

References

    1. Kaijomaa M, Ulander VM, Ryynanen M, Stefanovic V. Risk of Adverse Outcomes in Euploid Pregnancies With Isolated Short Fetal Femur and Humerus on Second-Trimester Sonography. J Ultrasound Med. 2016;35(12). 10.7863/ultra.16.01086. - PubMed
    1. Krakow D, Lachman RS, Rimoin DL. Guidelines for the prenatal diagnosis of fetal skeletal dysplasias. Genet Med. 2009;11(2). 10.1097/GIM.0b013e3181971ccb PMID: 19265753; PMCID: PMC2832320. - PMC - PubMed
    1. Schramm T, Mommsen H. Fetal Skeletal Disorders. Ultraschall Med. 2018;39(6). 10.1055/a-0660-9417. - PubMed
    1. Gibson BG, Briggs MD. The aggrecanopathies; an evolving phenotypic spectrum of human genetic skeletal diseases. Orphanet J Rare Dis. 2016;11(1):86. doi: 10.1186/s13023-016-0459-2. - DOI - PMC - PubMed
    1. Hauer NN, Sticht H, Boppudi S, Büttner C, Kraus C, Trautmann U, Zenker M, Zweier C, Wiesener A, Jamra RA, Wieczorek D, Kelkel J, Jung AM, Uebe S, Ekici AB, Rohrer T, Reis A, Dörr HG, Thiel CT. Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature. Sci Rep. 2017;22(1):7(1). doi: 10.1038/s41598-017-12465-6. - DOI - PMC - PubMed

Publication types