Kuehne, Benjamin, Heine, Eva, Dafsari, Hormos Salimi, Irvvin, Raphael, Heller, Raoul, Bangen, Ursula, Brockmeier, Konrad, Kribs, Angela, Oberthuer, Andre and Cirak, Sebahattin (2019). Use of whole exome sequencing in the NICU: Case of an extremely low birth weight infant with syndromic features. Mol. Cell. Probes, 45. S. 89 - 94. LONDON: ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD. ISSN 0890-8508

Full text not available from this repository.

Abstract

Single gene (Mendelian) disorders are one of the leading causes of neonatal morbidity and mortality. However, in the setting of preterm birth phenotypic features of genetic diseases are often undifferentiated and are clinically very difficult to interpret based on the wide range of differential diagnoses. We report an extremely low birth weight infant (ELBW) born prematurely at 23 + 0 gestational weeks after twin pregnancy with a novel clinical manifestation with persistent hyperglycaemia as well as the known manifestations of disease-associated hypokinesia, renal salt wasting, and multifocal atrial tachycardia. The patient died of heart failure on the 72nd day of life. Whole exome sequencing (WES) revealed a previously well established, disease-causing heterozygous likely pathogenic variant in the Harvey rat sarcoma viral oncogene homolog (HRAS)-gene (c.35G > C, p. G12A, rs104894230), which implied the clinical diagnosis of Costello syndrome (CS; OMIM#190020.0004). The twin brother merely had complications related to preterm birth and did not show any CS symptoms. In conclusion, our case illustrated that CS should be considered in ELBW infants showing a life-threatening combination of complex cardiac arrhythmia and hypokinesia. If a syndromic disorder is suspected in the neonatal intensive care unit (NICU) setting, rapid WES is a useful, non-invasive diagnostic tool in critically ill ELBW infants.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Kuehne, BenjaminUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Heine, EvaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dafsari, Hormos SalimiUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Irvvin, RaphaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Heller, RaoulUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bangen, UrsulaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Brockmeier, KonradUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kribs, AngelaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Oberthuer, AndreUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cirak, SebahattinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-146372
DOI: 10.1016/j.mcp.2019.03.002
Journal or Publication Title: Mol. Cell. Probes
Volume: 45
Page Range: S. 89 - 94
Date: 2019
Publisher: ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
Place of Publication: LONDON
ISSN: 0890-8508
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
COSTELLO-SYNDROME; MUTATIONS; POLYHYDRAMNIOSMultiple languages
Biochemical Research Methods; Biochemistry & Molecular Biology; Biotechnology & Applied Microbiology; Cell BiologyMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/14637

Downloads

Downloads per month over past year

Altmetric

Export

Actions (login required)

View Item View Item