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Silver-Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C.

Silver-Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C.

Authors :
Nakashima, Shinichi
Kato, Fumiko
Kosho, Tomoki
Nagasaki, Keisuke
Kikuchi, Toru
Kagami, Masayo
Fukami, Maki
Ogata, Tsutomu
Source :
Journal of Human Genetics; Feb2015, Vol. 60 Issue 2, p91-95, 5p
Publication Year :
2015

Abstract

We report duplications of maternally derived chromosome 11p15 involving CDKN1C encoding a negative regulator for cell proliferation in three Japanese patients (cases 1 and 2 from family A and case 3 from family B) with Silver-Russell syndrome (SRS) phenotype lacking hemihypotrophy. Chromosome analysis showed 46,XX,der(16)t(11;16)(p15.3;q24.3)mat in case 1, 46,XY,der(16)t(11;16)(p15.3;q24.3)mat in case 2 and a de novo 46,XX,der(17)t(11;17)(p15.4;q25.3) in case 3. Genomewide oligonucleotide-based array comparative genomic hybridization, microsatellite analysis, pyrosequencing-based methylation analysis and direct sequence analysis revealed the presence of maternally derived extra copies of the distal chromosome 11p involving the wild-type CDKN1C (a ~7.98 Mb region in cases 1 and 2 and a ~4.43 Mb region in case 3). The results, in conjunction with the previous findings in patients with similar duplications encompassing CDKN1C and in those with intragenic mutations of CDKN1C, imply that duplications of CDKN1C, as well as relatively mild gain-of-function mutations of CDKN1C lead to SRS subtype that usually lack hemihypotrophy. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
14345161
Volume :
60
Issue :
2
Database :
Complementary Index
Journal :
Journal of Human Genetics
Publication Type :
Academic Journal
Accession number :
101147646
Full Text :
https://doi.org/10.1038/jhg.2014.100