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.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117 Am+J+Med+Genet+A
2013 ; 161A
(10
): 2652-5
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Silver-Russell syndrome due to paternal H19/IGF2 hypomethylation in a twin girl
born after in vitro fertilization
#MMPMID24038823
Cocchi G
; Marsico C
; Cosentino A
; Spadoni C
; Rocca A
; De Crescenzo A
; Riccio A
Am J Med Genet A
2013[Oct]; 161A
(10
): 2652-5
PMID24038823
show ga
Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous
syndrome characterized by severe intrauterine and postnatal growth retardation,
facial dysmorphism and body asymmetry. One of the main molecular mechanisms
leading to the syndrome involves methylation abnormalities of chromosome 11p15.
In the last decades, an increase of imprinting disorders have been reported in
children born from assisted reproductive technology (ART); however there is
currently little evidence linking SRS and ART. Only few infants with SRS born
using ART, supported by molecular analysis, have been described. We report on a
twin-girl conceived using intracytoplasmic sperm injection (ICSI) diagnosed with
SRS. Molecular studies revealed a hypomethylation of the paternal H19/IGF2
Imprinting Control Region. Her twin sister had a normal prenatal and postnatal
growth and a normal methylation pattern of the chromosome 11p15. This is the
second reported case of a twin infant with SRS conceived using ART with
hypomethylation of H19/IGF2; it provides additional evidence of a possible
relationship between ART procedures and methylation defects observed in SRS.
Given the clinical heterogeneity of SRS, and the increased risk of multiple and
preterm births in the ART-conceived children, it is possible that a number of
cases of SRS remains undiagnosed in this population. Future studies should
investigate the possible link between ART and SRS, in order to better understand
the causes of epimutations in ART pregnancies, and to help clinicians to
adequately counsel parents who approach to ART and to assess the opportunity of a
long-term follow-up of children conceived using ART.
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