NDLI: 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

Content Provider	Springer Nature : BioMed Central
Author	Toscano, Paolo Di Meglio, Lavinia Lonardo, Fortunato Di Meglio, Letizia Mazzarelli, Laura Letizia Sica, Carmine Di Meglio, Aniello
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.
Related Links	https://bmcpregnancychildbirth.biomedcentral.com/counter/pdf/10.1186/s12884-021-03952-w.pdf
Ending Page	5
Page Count	5
Starting Page	1
File Format	HTM / HTML
ISSN	14712393
DOI	10.1186/s12884-021-03952-w
Journal	BMC Pregnancy and Childbirth
Issue Number	1
Volume Number	21
Language	English
Publisher	BioMed Central
Publisher Date	2021-06-29
Access Restriction	Open
Subject Keyword	Reproductive Medicine Maternal and Child Health Gynecology ACAN Prenatal diagnosis Skeletal dysplasia Aggrecan Case report
Content Type	Text
Resource Type	Case study
Subject	Obstetrics and Gynecology
Journal Impact Factor	2.8/2023
5-Year Journal Impact Factor	3.4/2023

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