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Improved genetic counseling in A lport syndrome by new variants of COL4A5 gene
Author(s) -
FernandezRosado Francisco,
Campos Ana,
AlvarezCubero Maria Jesus,
Ruiz Ana,
EntralaBernal Carmen
Publication year - 2015
Publication title -
nephrology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.752
H-Index - 61
eISSN - 1440-1797
pISSN - 1320-5358
DOI - 10.1111/nep.12486
Subject(s) - genetic counseling , alport syndrome , medicine , missense mutation , disease , heredity , mutation , genetics , gene , prenatal diagnosis , genetic testing , bioinformatics , pregnancy , biology , fetus , glomerulonephritis , kidney
There are current requirements of using genetic databases for offering a better genetic assistance to patients of some syndromes, especially those with X ‐linked heredity patterns (like A lport S yndrome) for the high probability of having descendants affected by the disease. We describe the first reported case of COL4A5 gene missense c.1499 G > T mutation in a 16‐year‐old girl confirmed to be affected by A lport S yndrome after genetic counseling. N ext G eneration S equencing procedures let discover this mutation and offer an accurate clinical treatment to this patient. Current scientific understanding of genetic syndromes suggests the high importance of updated databases and the inclusion of V ariant of U nknown S ignificance related to clinical cases. All of this updating could enable patients to have a better opportunity of diagnosis and having genetic and clinical counseling. This event is even more important in women planning to start a family to have correct genetic counseling regarding the risk posed to offspring, and allowing the decision to undergo prenatal testing.