Table 1

RET germline mutations in 33 CCHS patients

PatientExon/ intronMutationNucleotideAlteration in sequenceEvolutionary conservationHSCR (phenotype)
*M = mouse. †C = chicken
112IVS12 + 54C>AC to ANo HSCR
214P841LCCG to CTGMissenseM*Short
313Y791FTAT to TTTMissenseM, C†Long