Recently the first compound heterozygote
for PCSK9 loss-of-function mutations was described.
However, subsequent genetic analysis remains demanding because >400 mutations within ATP7B have been already recorded, and most patients are compound heterozygote
We analyzed 3 peptides to measure the [delta]-chain, so that even in compound heterozygote
[delta]-chain mutations, 1 of the transitions should still give the correct value.
In a WD compound heterozygote
, if the wild-type allele fails to be amplified by PCR, DNA sequencing or restriction analysis of the PCR products will show apparent homozygosity of the corresponding mutant alleles.
In the control group, we found a compound heterozygote
for the (TA)5 and (TA), alleles associated with homozygosity for the c.-3279T>G polymorphism.
We used allele-specific amplification targeting the R117H locus combined with long-range PCR (12) to amplify two 17.7-kb amplicons from an R117H/[DELTA]F508 compound heterozygote
. As a control, a common forward primer was used to amplify both chromosomes in a third 17.7-kb amplicon.
Janner et al (26) showed the positive impact of oral 17-[beta] estradiol treatment on longitudinal growth, bone age maturation, regulation of pituitary gonadotropin feedback, improving multicystic ovaries and bone density in the long-term follow-up of a girl with a compound heterozygote
mutation in CYP19A1 gene.
The updated recommendation has been expanded to include patients with genetic documentation of 5q SMA homozygous gene deletion, homozygous mutation, or compound heterozygote
; are pre-symptomatic with two or three copies of SMN2, or have had disease duration of less than six months, two copies of SMN2, and symptom onset after the first week after birth and on or before seven months of age, or are 12 years of age or younger with symptom onset after six months of age, and never achieved the ability to walk independently; patient is not currently requiring permanent invasive ventilation.
The two cases of MWS presented with non-classical genetics including one as compound heterozygote
for CIAS 1 and the other for the NOD gene.
The compound heterozygote
LIPA mutation in our patients showed similar clinical features and biochemical parameters to patients with the homozygous c.894G>A mutation (4).
(10) Patient 3 had the p.P302L (c905 C>T)/p.A64T (c.1906G>A) compound heterozygote
Nine patients (21%) had homozygote mutation in the MEFV gene and 16 (37%) and 17 (40%) had compound heterozygote
and patients with one mutation, respectively.