Mutation Analysis of the RET and the Endothelin Signaling Pathways in a Spanish Female with Congenital Central Hypoventilation Syndrome Associated with Hirschsprung Disease

Abstract

A female child with congenital central hypoventilation syndrome (CCHS) associated with Hirschsprung disease (HSCR) was examined for her genomic DNA in the coding region of the receptor tyrosine kinase (RET) and the endothelin-B receptor (EDNRB) genes. No disease causative mutation was detected but a single nucleotide polymorphism was observed in exon 11 of the RET proto-oncogene. In case with CCHS, HSCR occurs with a high incidence, and this disease complex have been described as neurocristopathies due to aberrations in neural crest cell proliferation, differentiation or migration during early fetal periods. Both of the RET and EDNRB genes may be involved in the modulation of neurocristopathies. However, further systemic studies in a large population of patients should be necessary to elucidate the pathogenesis of the disorder.