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Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome.
Prenat Diagn. 2016 Oct; 36(10):961-965.PD

Abstract

OBJECTIVE

Simpson-Golabi-Behmel (SGBS) syndrome type 1 and type 2 represent rare X-linked prenatal overgrowth disorders. The aim of our study is to describe the prenatal sonographic features as well as the genetic work-up.

METHOD

Retrospective analysis of four cases with a pre- or postnatal diagnosis of SGBS in a single tertiary referral center within a period of 4 years.

RESULTS

In the study period, four male fetuses with SGBS were detected. The final diagnosis was made prenatally in three cases. In all cases the second trimester anomaly scan revealed left sided congenital diaphragmatic hernia (CDH) with additional anomalies; three fetuses with SGBS type 1 showed fetal overgrowth. In two of these, whole exome sequencing showed a possible frameshift mutation and a point mutation in the gene GPC3, respectively. In the third case, multiplex ligation-dependent probe amplification (MLPA) revealed a hemizygous duplication of exon 3-7 in the gene GPC3. In the fourth case, SGBS type 2 was confirmed by array comparative genomic hybridization (CGH) of amniotic fluid cells showing a deletion of the gene OFD1.

CONCLUSION

We could demonstrate, that in the presence of a CDH, syndromes of the fetus can be increasingly differentiated by detailed sonography followed by a selective and graded molecular diagnostic using microarray techniques and whole exome sequencing. © 2016 John Wiley & Sons, Ltd.

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Publisher Full Text (DOI)

Authors+Show Affiliations

Kehrer C
Department of Obstetrics and Prenatal Medicine, University of Bonn, Bonn, Germany.
Hoischen A
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Menkhaus R
Center for Assisted Reproduction and Prenatal Diagnosis, Minden, Germany.
Schwab E
Medical Office for Human Genetics, Wiesbaden, Germany.
Müller A
Department of Neonatology and Pediatric Intensive Care, University of Bonn, Bonn, Germany.
Kim S
Institute of Human Genetics, University of Bonn, Bonn, Germany.
Kreiβ M
Institute of Human Genetics, University of Bonn, Bonn, Germany.
Weitensteiner V
Institute of Human Genetics, University of Bonn, Bonn, Germany.
Hilger A
Institute of Human Genetics, University of Bonn, Bonn, Germany.
Berg C
Department of Obstetrics and Prenatal Medicine, University of Bonn, Bonn, Germany.
Geipel A
Department of Obstetrics and Prenatal Medicine, University of Bonn, Bonn, Germany.
Reutter H
Department of Neonatology and Pediatric Intensive Care, University of Bonn, Bonn, Germany. Institute of Human Genetics, University of Bonn, Bonn, Germany.
Gembruch U
Department of Obstetrics and Prenatal Medicine, University of Bonn, Bonn, Germany. ulrich.gembruch@ukb.uni-bonn.de.

MeSH

Abnormalities, MultipleAdultArrhythmias, CardiacComparative Genomic HybridizationFemaleFetal MacrosomiaGenetic Diseases, X-LinkedGigantismHeart Defects, CongenitalHernias, Diaphragmatic, CongenitalHumansInfant, NewbornIntellectual DisabilityKaryotypingMalePregnancyPrenatal DiagnosisSequence Analysis, DNAUltrasonography, Prenatal

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

27589329

Citation

Kehrer, Christina, et al. "Whole Exome Sequencing and Array-based Molecular Karyotyping as Aids to Prenatal Diagnosis in Fetuses With Suspected Simpson-Golabi-Behmel Syndrome." Prenatal Diagnosis, vol. 36, no. 10, 2016, pp. 961-965.
Kehrer C, Hoischen A, Menkhaus R, et al. Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome. Prenat Diagn. 2016;36(10):961-965.
Kehrer, C., Hoischen, A., Menkhaus, R., Schwab, E., Müller, A., Kim, S., Kreiβ, M., Weitensteiner, V., Hilger, A., Berg, C., Geipel, A., Reutter, H., & Gembruch, U. (2016). Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome. Prenatal Diagnosis, 36(10), 961-965. https://doi.org/10.1002/pd.4920
Kehrer C, et al. Whole Exome Sequencing and Array-based Molecular Karyotyping as Aids to Prenatal Diagnosis in Fetuses With Suspected Simpson-Golabi-Behmel Syndrome. Prenat Diagn. 2016;36(10):961-965. PubMed PMID: 27589329.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome. AU - Kehrer,Christina, AU - Hoischen,Alexander, AU - Menkhaus,Ralf, AU - Schwab,Eva, AU - Müller,Andreas, AU - Kim,Sarah, AU - Kreiβ,Martina, AU - Weitensteiner,Valerie, AU - Hilger,Alina, AU - Berg,Christoph, AU - Geipel,Anne, AU - Reutter,Heiko, AU - Gembruch,Ulrich, Y1 - 2016/09/27/ PY - 2015/11/16/received PY - 2016/08/25/revised PY - 2016/08/27/accepted PY - 2016/9/3/pubmed PY - 2017/8/10/medline PY - 2016/9/3/entrez SP - 961 EP - 965 JF - Prenatal diagnosis JO - Prenat Diagn VL - 36 IS - 10 N2 - OBJECTIVE: Simpson-Golabi-Behmel (SGBS) syndrome type 1 and type 2 represent rare X-linked prenatal overgrowth disorders. The aim of our study is to describe the prenatal sonographic features as well as the genetic work-up. METHOD: Retrospective analysis of four cases with a pre- or postnatal diagnosis of SGBS in a single tertiary referral center within a period of 4 years. RESULTS: In the study period, four male fetuses with SGBS were detected. The final diagnosis was made prenatally in three cases. In all cases the second trimester anomaly scan revealed left sided congenital diaphragmatic hernia (CDH) with additional anomalies; three fetuses with SGBS type 1 showed fetal overgrowth. In two of these, whole exome sequencing showed a possible frameshift mutation and a point mutation in the gene GPC3, respectively. In the third case, multiplex ligation-dependent probe amplification (MLPA) revealed a hemizygous duplication of exon 3-7 in the gene GPC3. In the fourth case, SGBS type 2 was confirmed by array comparative genomic hybridization (CGH) of amniotic fluid cells showing a deletion of the gene OFD1. CONCLUSION: We could demonstrate, that in the presence of a CDH, syndromes of the fetus can be increasingly differentiated by detailed sonography followed by a selective and graded molecular diagnostic using microarray techniques and whole exome sequencing. © 2016 John Wiley & Sons, Ltd. SN - 1097-0223 UR - https://www.unboundmedicine.com/medline/citation/27589329/Whole_exome_sequencing_and_array_based_molecular_karyotyping_as_aids_to_prenatal_diagnosis_in_fetuses_with_suspected_Simpson_Golabi_Behmel_syndrome_ DB - PRIME DP - Unbound Medicine ER -