scholarly journals APC and MUTYH Analysis in FAP Patients: A Novel Mutation in APC Gene and Genotype-Phenotype Correlation

Genes ◽  
2018 ◽  
Vol 9 (7) ◽  
pp. 322 ◽  
Author(s):  
Giovanna D’Elia ◽  
Gemma Caliendo ◽  
Amelia Casamassimi ◽  
Michele Cioffi ◽  
Anna Molinari ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Apc Gene ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals TUBB4A novel mutation reinforces the genotype–phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum

Brain ◽  
2014 ◽  
Vol 138 (2) ◽  
pp. e327-e327 ◽  
Author(s):  
Daniel Carvalho ◽  
Savana Santos ◽  
Bernardo Martins ◽  
Fernanda Pinto Marques
Keyword(s):  
Basal Ganglia ◽  
Novel Mutation ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction

2016 ◽  
Vol 175 (2) ◽  
pp. 107-116 ◽  
Author(s):  
Daniel F de Carvalho ◽  
Mirela C Miranda ◽  
Larissa G Gomes ◽  
Guiomar Madureira ◽  
José A M Marcondes ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Founder Effect ◽  
Novel Mutation ◽  
Point Mutations ◽  
Carrier Status ◽  
Adrenal Hyperplasia ◽  
Phenotype Correlation ◽  
Specific Pcr ◽  
Genotype Phenotype Correlation ◽  
Simple Virilizing

Background Most congenital adrenal hyperplasia (CAH) patients carry CYP21A2 mutations derived from conversion events involving the pseudogene, and the remaining carry new mutations. Objective To review causal mutations and genotype–phenotype correlation in 480 Brazilian patients. Methods DNA was extracted from 158 salt-wasters (SWs), 116 simple virilizing (SV), and 206 nonclassical (NC) patients. Fourteen point mutations were screened by allele-specific PCR, large rearrangements by Southern blotting/MLPA, and sequencing was performed in those with incomplete genotype. The gene founder effect was analyzed by microsatellite studies. Patients were divided into six genotypes (Null; A: <2%; B: 3–7%; C: >20% of residual enzymatic activity (EA); D: unknown EA; E: incomplete genotype). Results Targeted methodologies defined genotype in 87.6% of classical and in 80% of NC patients and the addition of sequencing in 100 and 83.5%, respectively. The most frequent mutations were p.V281L (26.6% of alleles), IVS2-13A/C>G (21.1%), and p.I172N (7.5%); seven rare mutations and one novel mutation (p.E351V) were identified. Gene founder effect was observed in all but one (p.W19X) mutation. Null, A, B, and C genotypes correlated with SW (88%), SW (70%), SV (98%), and NC forms (100%), respectively. In group D, the p.E351V mutation correlated with classical form and group E comprised exclusively NC-patients. ACTH-stimulated 17OHP level of 44.3ng/mL was the best cutoff to identify NC-patients carrying severe mutations. Conclusions We identified a good genotype–phenotype correlation in CAH, providing useful data regarding prediction of disease’s severity; moreover, we suggest that ACTH-stimulated 17OHP levels could predict carrier status for severe mutations. Sequencing is essential to optimize molecular diagnosis in Brazilian CAH patients.

A novel mutation in the AGXT gene causing primary hyperoxaluria type I: genotype–phenotype correlation

2016 ◽  
Vol 95 (3) ◽  
pp. 659-666 ◽  
Author(s):  
SAOUSSEN M’DIMEGH ◽  
CÉCILE AQUAVIVA-BOURDAIN ◽  
ASMA OMEZZINE ◽  
IBTIHEL M’BAREK ◽  
GENEVIÉVE SOUCHE ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Primary Hyperoxaluria ◽  
Type I ◽  
Phenotype Correlation ◽  
Primary Hyperoxaluria Type ◽  
Genotype Phenotype Correlation ◽  
Hyperoxaluria Type I ◽  
Primary Hyperoxaluria Type I ◽  
Agxt Gene ◽  
Hyperoxaluria Type
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