Paolo Toscano1,2, Lavinia Di Meglio3,4, Fortunato Lonardo5, Letizia Di Meglio2, Laura Letizia Mazzarelli1,2, Carmine Sica2, Aniello Di Meglio2. 1. Department of Neuroscience, Reproductive Sciences and Dentistry, School of Medicine and Surgery Federico II of Naples, University of Naples Federico II, Naples, Italy. 2. Diagnostica Ecografica e Prenatale di A. Di Meglio, Via dei Fiorentini n.21, Naples, Italy. 3. Diagnostica Ecografica e Prenatale di A. Di Meglio, Via dei Fiorentini n.21, Naples, Italy. laviniadimeglio@gmail.com. 4. Department of Obstetrics and Gynecology, H. Buzzi, University of Milan, Milan, Italy. laviniadimeglio@gmail.com. 5. Department of Medical Genetics, A.O.R.N. "San Pio", Benevento, Italy.
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.
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.
Entities:
Keywords:
ACAN; Aggrecan; Case report; Prenatal diagnosis; Skeletal dysplasia