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; Lavinia Di Meglio; Fortunato Lonardo; Letizia Di Meglio; Laura Letizia Mazzarelli; Carmine Sica; Aniello Di Meglio

doi:10.1186/s12884-021-03952-w

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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

Authors

Toscano, Paolo^{1, 2}
Di Meglio, Lavinia^{2, 3}
Lonardo, Fortunato⁴
Di Meglio, Letizia²
Mazzarelli, Laura Letizia^{1, 2}
Sica, Carmine²
Di Meglio, Aniello²

¹ University of Naples Federico II, Naples, Italy , Naples (Italy)
² Diagnostica Ecografica e Prenatale di A. Di Meglio, Via dei Fiorentini n.21, Naples, Italy , Naples (Italy)
³ University of Milan, Milan, Italy , Milan (Italy)
⁴ A.O.R.N. “San Pio”, Benevento, Italy , Benevento (Italy)

Type

Published Article

Journal

BMC Pregnancy and Childbirth

Publisher

Springer (Biomed Central Ltd.)

Publication Date

Jun 29, 2021

Volume

21

Issue

1

Identifiers

DOI: 10.1186/s12884-021-03952-w

Source

Springer Nature

Keywords

Disciplines

Fetal Medicine

License

Green

Abstract

BackgroundHeterozygous 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 presentationA 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.ConclusionSequence 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.

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Abstract

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

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.

Statistics