A Novel Mutation in NIPBL Gene with the Cornelia de Lange Syndrome and a 10q11.22-q11.23 Microdeletion in the Same Individual

Abstract

The Cornelia de Lange syndrome (CdLS) is a genetic disorder characterized by multisystemic malformations. CdLS is due to mutations in one of the following genes: NIPBL, SMC1A, SMC3, RAD21, and HDAC8. On the other hand, 10q11.2 deletions cause a wide range of presentations in patients. Approximately 40 cases with variable deletions of 10q11.2 have been reported in literature. Some of the reported cases involve the coexistence of duplication or deletion affecting one copy of the chromosome. However, deletion of chromosome 10q11.22-q11.23 and CdLS syndrome caused by NIPBL gene mutations have not been reported previously. This report, therefore, is the first to report their coexistence together.

Keywords

the Cornelia de Lange syndrome - NIPBL gene - 10q11.2 micro deletion

Availability of Data and Materials

All data used in this study are available from the corresponding author on reasonable request.

Authors' Contributions

H.B. and Ö.Ö. designed the study; S.B. and Ö.Ö. made the examination of the patient and family; H.B. and Ö.Ö. wrote manuscript. B.T. performed the genetic studies. All authors read and approved the final manuscript.

Publikationsverlauf

Eingereicht: 19. Juni 2020

Angenommen: 01. September 2020

Artikel online veröffentlicht:
15. Oktober 2020

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