SAT-444 GENOTYPE - PHENOTYPE CORRELATION IN A PEDIATRIC ADPKD COHORT

Chromosome Duplication (14q) and The Genotype Phenotype Correlation

TBC1D24 genotype–phenotype correlation

OBJECTIVE To evaluate the phenotypic spectrum associated with mutations in TBC1D24. METHODS We acquired new clinical, EEG, and neuroimaging data of 11 previously unreported and 37 published patients. TBC1D24 mutations, identified through various sequencing methods, can be found online (http://lovd.nl/TBC1D24). RESULTS Forty-eight patients were included (28 men, 20 women, average age 21 year...

Genotype-phenotype relationships in a cohort

Genotype-phenotype relationships in a cohort of adult cystic fibrosis patients. D. Hubert, T. Bienvenu, N. Desmazes-Dufeu, I. Fajac, J. Lacronique, R. Matran, J.C. Kaplan, D.J. Dusser. ERS Journals Ltd 1996. ABSTRACT: In cystic fibrosis (CF), relationships between genotype and phenotype have been shown for pancreatic status but not for pulmonary disease. One hundred and ten adult CF patients w...

FMF Genotype-phenotype correlation in Iranian Azeri Turks: Association between M694V/R761H mutation and amyloidosis

Objective(s):Familial Mediterranean fever (FMF), an inherited autosomal recessive disorder, is frequently present among individuals of Mediterranean origin. Differences in the clinical manifestations of FMF between different ethnic groups have been documented. The aim of the present study was to determine the most common characteristics of FMF and the relationship between clinical findings and ...

Correlation between phenotype and genotype in a large unselected cohort of children with severe hemophilia A.

Phenotypic variability is well recognized in severe hemophilia A. A few studies, mainly in adults treated lifelong on demand, suggest that bleeding phenotype correlates with factor VIII gene (F8) mutation type. Because treatment regimens influence outcomes to a large extent, examining bleeding phenotype during the first years of life may be the most suitable way to define this variability. We s...