Table 2

Clinical and molecular characterisation of our CCHS patients

Country of originPatientsVentilationANSDGastro-intestinal symptomsMutationTransmission
I, Italy; G, Germany; NL, The Netherlands; F, familial case; LO-CHS, late onset CHS; O, ocular anomalies
*distinguishes expansions of similar size but different localisation within the polyalanine stretch Growth hormone deficiency; died at 4 months; §tetralogy of Fallot; ne, not expanded
I01 LOCHSduring sleepdup15de novo
I02during sleepOdup18de novo
I03during sleepdysrhythmia, loss of consciousnessdup18*de novo
I04 Fduring sleepOconstipationdup15inherited
I05during sleepO, decreased heart rate variabilitydup21de novo
I06during sleepOdup21de novo
I07during sleepdup18de novo
I08during sleepdup18*de novo
I09during sleepdup18*inherited
I1024 hrOconstipationdup33de novo
G11 Fduring sleepdup15*?
G12during sleepdup18*?
G1324 hrdup21?
G1424 hrHSCRdup39?
I15 LOCHSduring sleepdup15de novo
I16during sleeploss of consciousnessabdominal paindup15*de novo
I17 LOCHSduring sleepne
I18during sleepdup18*de novo
I19during sleepgastroesophageal refluxdup15de novo
I20during sleepO, loss of consciousness, altered sweatingdysphagiadup21?
I21during sleepO, dysrhythmia, loss of consciousnessconstipationinsGde novo
G22during sleepHSCRdup21de novo
I23during sleepaltered perception of painconstipationdup15de novo
I2424 hrOHSCRdel38de novo
NL25Fduring sleepne
NL27§during sleepdelCinherited
I28during sleepOdup18de novo