Table 2.

Reported human ENaC mutations causing the autosomal recessive form of PHA-1

SubunitMutationTypeGenotype ReferenceClinical Description Reference
a NR, not reported.
αI68 frameshiftHomozygous106156
C133YHomozygous54, 139Lifton RP, personal communication
S483 frameshiftHomozygous119119
R492 stopHomozygousBonny O, manuscript in preparationBonny O, manuscript in preparation
R508 stopHomozygous106, 1182,115,157
R56 stop and R139 deletionCompound heterozygous118NRa
T168 frameshift and F435 frameshiftCompound heterozygous118NR
S243 frameshift and S483 frameshiftCompound heterozygous119116
S562L and S483 frameshiftCompound heterozygous119119
βG37SHomozygous106106
T216 frameshift and D305 frameshift
Compound heterozygous118NR
γKYS106–108→N and 134stopHomozygous131130
V543 frameshift and acceptor splice site mutation exon 13Compound heterozygous153153