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Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)
A homozygous substitution/deletion mutation of the EDA/3 gene is reported in a WS-HSCR patient, supporting the view that the endothelin-signaling pathways play a major role in the development of neural crests.
Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease.
Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease.
The low penetrance of the mutant gene, the lack of genotype-phenotype correlation, the sex-dependent effect of RET mutations and the variable clinical expression of the disease support the existence of one or more modifier genes in familial HSCR.
Podocin localizes in the kidney to the slit diaphragm area.
Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer
It is found that CDH1 is highly expressed at 4 and 5 weeks in the frontonasal prominence, and at 6 Weeks in the lateral and medial nasal prominences of human embryos, and is therefore expressed during the critical stages of lip and palate development, suggesting that alteration of the E-cadherin pathway can contribute to human clefting.
Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene.
It is suggested that specific mutations in cysteine codons 618 and 620 result in MEN 2A or FMTC, but can also predispose to HSCR with low penetrance.
A gene for Meckel syndrome maps to chromosome 11q13.
The mapping of a second MKS locus (MKS2) to chromosome 11q13 is reported, by homozygosity mapping in seven families that do not show linkage to chromosome 17q21-q24 (maximum LOD score 4.41 at recombination fraction .01), giving support to the clinical and genetic heterogeneity of MKS.
Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease
S segregation analysis suggested an incompletely penetrant dominant inheritance in HSCR families with agan-glionosis extending beyond the sigmoid colon, and mutations of the gene encoding GDNF could either cause or modulate the H SCR phenotype in some cases.
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease.
Heterozygous EDNRB missense mutations are reported in isolated HSCR, giving further support to the role of the endothelin-signalling pathway in the development of neural crest-derived enteric neurons and suggesting that EDNRBs could be dosage sensitive.
Mutations of the RET-GDNF signaling pathway in Ondine's curse.
This study was supported by the Association pour la Recherche sur le Cancer, the Association Francaise contre les Myopathies, and the Projet Hospitalier de Recherche Clinique (grant AOA94060). We…