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Gerard-Blanluet M.,APHP Robert Debre Hospital | Port-Lis M.,Pointe a Pitre University hospital | Baumann C.,APHP Robert Debre Hospital | Perrin-Sabourin L.,APHP Robert Debre Hospital | And 5 more authors.
American Journal of Medical Genetics, Part A | Year: 2010

Prune-belly sequence (PBS) usually results from early urethral obstruction. In rare cases, PBS seems to be due to a faulty primary development of the parietal mesenchyme leading to underdevelopment of the abdominal wall musculature, and disorganization of the smooth muscles in the urinary tract. We report on two patients with segmental, unilateral wall musculature deficiency associated with homolateral agenesis of ribs. One patient also had hemivertebrae and the other one ipsilateral diaphragmatic eventration and aplasia cutis. This combination of anomalies may represent a localized deficiency in the development of somitic mesoderm mesenchyme during early embryogenesis. © 2010 Wiley-Liss, Inc.

Azzi S.,French Institute of Health and Medical Research | Blaise A.,French Institute of Health and Medical Research | Steunou V.,French Institute of Health and Medical Research | Harbison M.D.,Mount Sinai School of Medicine | And 11 more authors.
Human Mutation | Year: 2014

Russell-Silver Syndrome (RSS) is a prenatal and postnatal growth retardation syndrome caused mainly by 11p15 ICR1 hypomethylation. Clinical presentation is heterogeneous in RSS patients with 11p15 ICR1 hypomethylation. We previously identified a subset of RSS patients with 11p15 ICR1 and multilocus hypomethylation. Here, we examine the relationships between IGF2 expression, 11p15 ICR1 methylation, and multilocus imprinting defects in various cell types from 39 RSS patients with 11p15 ICR1 hypomethylation in leukocyte DNA. 11p15 ICR1 hypomethylation was more pronounced in leukocytes than in buccal mucosa cells. Skin fibroblast IGF2 expression was correlated with the degree of ICR1 hypomethylation. Different tissue-specific multilocus methylation defects coexisted in 38% of cases, with some loci hypomethylated and others hypermethylated within the same cell type in some cases. Our new results suggest that tissue-specific epigenotypes may lead to clinical heterogeneity in RSS. © 014 WILEY PERIODICALS, INC.

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