Familial Russell–Silver Syndrome like Phenotype in the PCNA Domain of the CDKN1C Gene, a Further Case
Joint Authors
Sabir, A. H.
Ryan, G.
Mohammed, Z.
Kirk, J.
Kiely, N.
Thyagarajan, M.
Cole, T.
Source
Issue
Vol. 2019, Issue 2019 (31 Dec. 2019), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2019-12-22
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract EN
We present two half siblings with significant short stature who proved a diagnostic challenge for several years.
Radiological findings included subtle epiphyseal changes.
The diagnosis was made through whole genome sequencing via the 100,000 genome project.
A maternally inherited pathogenic heterozygous CDKN1C variant was found in the PCNA (proliferating cell nuclear antigen) domain.
Mutations of the PCNA domain of the CDKN1C gene are known to be associated with IMAGe syndrome thus with adrenal disease, although neither affected patient in our case had evidence of adrenal dysfunction.
This report supports the previously reported findings of Russell–Silver syndrome (RSS) like phenotype caused by this unusual mechanism (CDKN1C mutations in the PCNA domain), highlights subtle radiological features not described previously and the phenotypic variability between two affected siblings.
Additionally it reminds clinicians of the importance of considering associated adrenal disease/diabetes mellitus for variants within the PCNA domain.
Finally it confirms RSS-like disorders should be considered in patients who have epiphyseal or metaphyseal changes and short stature, since CDKN1C PCNA domain mutations can result in this phenotype.
American Psychological Association (APA)
Sabir, A. H.& Ryan, G.& Mohammed, Z.& Kirk, J.& Kiely, N.& Thyagarajan, M.…[et al.]. 2019. Familial Russell–Silver Syndrome like Phenotype in the PCNA Domain of the CDKN1C Gene, a Further Case. Case Reports in Genetics،Vol. 2019, no. 2019, pp.1-8.
https://search.emarefa.net/detail/BIM-1136004
Modern Language Association (MLA)
Sabir, A. H.…[et al.]. Familial Russell–Silver Syndrome like Phenotype in the PCNA Domain of the CDKN1C Gene, a Further Case. Case Reports in Genetics No. 2019 (2019), pp.1-8.
https://search.emarefa.net/detail/BIM-1136004
American Medical Association (AMA)
Sabir, A. H.& Ryan, G.& Mohammed, Z.& Kirk, J.& Kiely, N.& Thyagarajan, M.…[et al.]. Familial Russell–Silver Syndrome like Phenotype in the PCNA Domain of the CDKN1C Gene, a Further Case. Case Reports in Genetics. 2019. Vol. 2019, no. 2019, pp.1-8.
https://search.emarefa.net/detail/BIM-1136004
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1136004