Next Generation Sequencing Approach in a Prenatal Case of Cardio-Facio-Cutaneus Syndrome

Mucciolo, Mafalda; Dello Russo, Claudio; D’Emidio, Laura; Mesoraca, Alvaro; Giorlandino, Claudio

doi:10.3390/ijms17060952

Submit to this Journal Review for this Journal Edit a Special Issue

Article Menu

...

Open AccessCase Report

Next Generation Sequencing Approach in a Prenatal Case of Cardio-Facio-Cutaneus Syndrome

¹,

¹,

²,

^1,* and

Department of Human Genetics, Altamedica Fetal-Maternal Medical Centre, 00198 Rome, Italy

Department of Prenatal Diagnosis, Altamedica Fetal-Maternal Medical Centre, 00198 Rome, Italy

Author to whom correspondence should be addressed.

Academic Editor: William Chi-shing Cho

Int. J. Mol. Sci. 2016, 17(6), 952; https://doi.org/10.3390/ijms17060952

Received: 11 March 2016 / Revised: 19 May 2016 / Accepted: 1 June 2016 / Published: 16 June 2016

(This article belongs to the Special Issue Next-Generation Sequencing for Clinical Application)

View Full-Text Download PDF

Browse Figures

Citation Export

Abstract

Cardiofaciocutaneous syndrome (CFCS) belongs to a group of developmental disorders due to defects in the Ras/Mitogen-Activated Protein Kinase (RAS/MAPK) signaling pathway named RASophaties. While postnatal presentation of these disorders is well known, the prenatal and neonatal characteristics are less recognized. Noonan syndrome, Costello syndrome, and CFCS diagnosis should be considered in pregnancies with a normal karyotype and in the case of ultrasound findings such as increased nuchal translucency, polyhydramnios, macrosomia and cardiac defect. Because all the RASopathies share similar clinical features, their molecular characterization is complex, time consuming and expensive. Here we report a case of CFCS prenatally diagnosed through Next Generation Prenatal Diagnosis (NGPD), a new targeted approach that allows us to concurrently investigate all the genes involved in the RASophaties. View Full-Text

Keywords: cardiofaciocutaneous; RASophaties; BRAF; next generation sequencing; NGPD

▼ Show Figures

Graphical abstract

This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited

Share and Cite

MDPI and ACS Style

Mucciolo, M.; Dello Russo, C.; D’Emidio, L.; Mesoraca, A.; Giorlandino, C. Next Generation Sequencing Approach in a Prenatal Case of Cardio-Facio-Cutaneus Syndrome. Int. J. Mol. Sci. 2016, 17, 952. https://doi.org/10.3390/ijms17060952

AMA Style

Mucciolo M, Dello Russo C, D’Emidio L, Mesoraca A, Giorlandino C. Next Generation Sequencing Approach in a Prenatal Case of Cardio-Facio-Cutaneus Syndrome. International Journal of Molecular Sciences. 2016; 17(6):952. https://doi.org/10.3390/ijms17060952

Chicago/Turabian Style

Mucciolo, Mafalda, Claudio Dello Russo, Laura D’Emidio, Alvaro Mesoraca, and Claudio Giorlandino. 2016. "Next Generation Sequencing Approach in a Prenatal Case of Cardio-Facio-Cutaneus Syndrome" International Journal of Molecular Sciences 17, no. 6: 952. https://doi.org/10.3390/ijms17060952

Find Other Styles

Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Article Metrics

Abstract views Pdf views Html views

Article Menu

Next Generation Sequencing Approach in a Prenatal Case of Cardio-Facio-Cutaneus Syndrome

Abstract

Share and Cite

Article Metrics

Article Access Statistics

Article Access Map by Country/Region

Further Information

Guidelines

MDPI Initiatives

Follow MDPI