In this study, we examined the frequency of MEFV mutation, clinical manifestations, and the genotype-phenotype correlations in 116 Japanese patients with FMF.
Although cerebellar ataxia was a feature of all of the patients with compound heterozygous SPG7 mutations, cortical manifestations associated with other forms of mitochondrial disease such as cognitive impairment, epilepsy, encephalopathy and/or stroke-like events were not observed.
Genotype-phenotype correlations are confined to an interrelation of two truncating mutations with a mostly severe phenotype with peri- or neonatal demise and the observation that most patients surviving the neonatal period carry at least one missense mutation as milder manifestation [ 13, 14].
Even in this family in which all affected individuals have the same mutation, the clinical manifestations of HHT and their severity varied tremendously.
And to further study the relationship between genetic mutation and clinical manifestations.
In a presumed sporadic case, the recurrence risk depends on the presence of a DBA-associated mutation or any manifestations in first-degree relatives.
The present study was performed to examine the precise relationships between each type of MEFV mutation and clinical manifestations in a large cohort of Japanese FMF patients.
In the first family (R52H kinship) two sons of the index case carry the mutation without clinical manifestations of PA while only the index case was sequenced in the E246K family.
Although some variations may predict changes of protein functional features, no obvious correlation exists between mutation and clinical disease manifestation from the limited data reported here.
Because a mutation of CUL3 and manifestation of PHA II were not observed in the family members of the patient, in this case, the mutation was considered to be de novo.
While the presentation of AMN is the default manifestation of mutations in ABCD1, the cerebral disease cannot be explained by mutations in ABCD1 alone.
