What question did this study set out to answer?

To determine the frequency of RET mutations in Hirschsprung disease and explore the correlation between genotype and phenotype.

Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease

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Randomized trial investigates frequency of RET mutations in Hirschsprung disease, suggesting other factors influence susceptibility.

To determine the frequency of RET mutations in Hirschsprung disease and explore the correlation between genotype and phenotype.
Screened for mutations in 80 Hirschsprung disease probands using PCR and SSCP analysis of RET's 20 exons.
Investigated various phenotypes and family structures, focusing on both familial and isolated cases.
Identified eight putative mutations (10%) among screened probands, including missense and frameshift mutations.
Mutations C609Y and C620R previously linked to MEN2A and MTC were found, indicating a potential risk for neuroendocrine tumors in family members.
No significant relationship between RET genotype and Hirschsprung disease phenotype was observed.

Angrist et al. (1995) studied this question.

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