Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome - review of the literature

Research output: Contribution to journalLetterResearchpeer-review

DOI

  1. Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Leucocytes Mutation load Declines with Age in Carriers of the m.3243A>G Mutation. A 10-year Prospective Cohort

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Targeted Gene Sequencing and Whole-Exome Sequencing in Autopsied Fetuses with Prenatally Diagnosed Kidney Anomalies

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Haploinsufficiency of ARHGAP42 is associated with hypertension

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Autism and developmental disability caused by KCNQ3 gain-of-function variants

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations

In a patient with CdLS (IV.16) we identifed a novel single basepair deletion (c.704delG) in RAD21, which encodes a cohesin pathway protein. The variant is predicted to result in a premature stop codon [p.(Ser235Ilefs*19)] and hereby would have a deleterious effect. RAD21 variants have previously been described only in five cases with cohesinopathies (b). Notably, the deletion was found in the mother and the two aunts of the index patient, and none of them had been suspected of having CdLS or a cohesinopathy prior to this study (a). The index patient can be classified as mild CdLS, but the other family members do not fulfill the diagnostic criteria of CdLS. This study together with previous reports suggests incomplete penetrance associated with RAD21 variants and these individuals may therefore be underdiagnosed.

Original languageEnglish
JournalClinical Genetics
Volume91
Issue number4
Pages (from-to)647-649
ISSN0009-9163
DOIs
Publication statusPublished - 2017

ID: 49820171