DNA analysis of parents and affected family members was used to verify cosegregation
of the identified variants with the phenotype and establish a compound heterozygous state of these variants.
Finnish familial Meniere disease is not linked to chromosome 12p12.3, and anticipation and cosegregation
with migraine are not common findings.
Furthermore, the cosegregation
of this duplication with the phenotype in the family, in addition to its absence in the normal controls, gives further evidence about the pathogenic nature of the mutation.
In the current study we recruited two families from Sialkot region of Pakistan which were assessed by whole exome sequencing and cosegregation
The candidate variant was further confirmed by cosegregation
analysis and further functional analysis, including the reverse transcription polymerase chain reaction and Western blot of the proband's muscle.
of blood pressure with angiotensin converting enzyme and atrial natriuretic peptide receptor genes using Dahl salt-sensitive rats.
(Leu2587Phe) show cosegregation
with FCCX and may exert a function as susceptibility alleles in FCCX families .
The p.Arg201Cys was validated by Sanger sequencing in the patient and all the family members showing a cosegregation
of the mutation with the disease.
APOL1 is a neighbor gene presenting very strong cosegregation
with MYH9 in African descendants.
Among these families, cosegregation
was noticed in the mutation genes among the family members (Figures 2 and 3).
of the disease phenotype and the detected variants were confirmed in all family members by PCR amplification and Sanger sequencing.
Variant-Class 5 includes coding sequence variation resulting in a stop codon (nonsense or frameshift), splicing aberration variants by mRNA assay, large genomic deletions or duplications, abrogated mRNA/protein function variants based either on laboratory assays, on evidence for cosegregation
with disease, and on MSI tumor, and/or loss of MMR protein expression.