No evidence for involvement of SDHD in neuroblastoma pathogenesis

BACKGROUND: Deletions in the long arm of chromosome 11 are observed in a subgroup of advanced stage neuroblastomas with poor outcome. The deleted region harbours the tumour suppressor gene SDHD that is frequently mutated in paraganglioma and pheochromocytoma, which are, like neuroblastoma, tumours originating from the neural crest. In this study, we sought for evidence for involvement of SDHD in neuroblastoma. METHODS: SDHD was investigated on the genome, transcriptome and proteome level using mutation screening, methylation specific PCR, real-time quantitative PCR based homozygous deletion screening and mRNA expression profiling, immunoblotting, functional protein analysis and ultrastructural imaging of the mitochondria. RESULTS: Analysis at the genomic level of 67 tumour samples and 37 cell lines revealed at least 2 bona-fide mutations in cell lines without allelic loss at 11q23: a 4bp-deletion causing skip of exon 3 resulting in a premature stop codon in cell line N206, and a Y93C mutation in cell line NMB located in a region affected by germline SDHD mutations causing hereditary paraganglioma. No evidence for hypermethylation of the SDHD promotor region was observed, nor could we detect homozygous deletions. Interestingly, SDHD mRNA expression was significantly reduced in SDHD mutated cell lines and cell lines with 11q allelic loss as compared to both cell lines without 11q allelic loss and normal foetal neuroblast cells. However, protein analyses and assessment of mitochondrial morphology presently do not provide clues as to the possible effect of reduced SDHD expression on the neuroblastoma tumour phenotype. CONCLUSIONS: Our study provides no indications for 2-hit involvement of SDHD in the pathogenesis of neuroblastoma. Also, although a haplo-insufficient mechanism for SDHD involvement in advanced stage neuroblastoma could be considered, the present data do not provide consistent evidence for this hypothesis

PRUNE BELLY ANOMALY ON PRENATAL ULTRASOUND AS A PRESENTING FEATURE OF ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING SYNDROME (EEC)

Prune Belly anomaly on prenatal ultrasound as a presenting feature of Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome (EEC): We report on a fetus with prune belly anomaly presenting at 16 weeks gestation. Clinical evaluation after birth revealed other malformations reminiscent of the EEC syndrome. This diagnosis was also suspected in the mother and finally confirmed in both relatives by identification of a heterozygous mutation (p.R204W) in the p63 gene. With this paper we confirm the previously reported occurrence of prune belly anomaly in the EEC syndrome, however here in this family proven by genetic analysis

Prune belly anomaly on prenatal ultrasound as a presenting feature of ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC).

Item does not contain fulltextWe report on a fetus with prune belly anomaly presenting at 16 weeks gestation. Clinical evaluation after birth revealed other malformations reminiscent of the EEC syndrome. This diagnosis was also suspected in the mother and finally confirmed in both relatives by identification of a heterozygous mutation (p.R204W) in the p63 gene. With this paper we confirm the previously reported occurrence of prune belly anomaly in the EEC syndrome, however here in this family proven by genetic analysis

De allochtone bevolking in België : Algemene Volks- en Woningtelling op 1 maart 1991 (Monografie nr.3)

De studie begint met een overzicht van immigratiegolven vanaf het einde van de 19de eeuw. Van 1930 tot 1991 veranderden de leeftijds- en geslachtskenmerken van buitenlanders grondig. De sterke oververtegenwoordiging van mannelijke volwassenen en jonge kinderen is gestadig verminderd en de leeftijds- en geslachtsstructuur groeit naar die van de Belgische bevolking toe. De onderzoekers werken een adequate typologie uit voor de allochtone bevolkingsgroep en voeren een analyse uit op basis van deze typologie. Zij stellen het laagste opleidingsniveau vast bij de genaturaliseerde immigranten (tweede en derde generatie, na hun geboorte als buitenlander in België genaturaliseerd), de oude immigranten (in het buitenland geboren en nog steeds buitenlander) en de recente immigranten (in het buitenland geboren, nog steeds buitenlander maar nà 1986 toegekomen in België). De meeste buitenlanders wonen in 4 typische gebieden: de vroegere steenkoolbekkens, de grote steden, de grensgebieden en enkele tussengebieden in de driehoeken Brussel-Antwerpen-Gent en Brussel-Bergen-Namen. Een gedetailleerde analyse van de 6 stadsgewesten: Antwerpen, Gent, Hasselt-Genk, Charleroi, Luik en Brussel, sluit de studie af