Cargando…
The first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78G>A) and a silent (c.1305C>T) mutation and allows preimplantation genetic diagnosis
Tay-Sachs disease (TSD) is a recessively inherited neurodegenerative disorder caused by mutations in the HEXA gene resulting in β-hexosaminidase A (HEX A) deficiency and neuronal accumulation of GM2 ganglioside. We describe the first patient with Tay-Sachs disease in the Cypriot population, a juveni...
Autores principales: | , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287815/ https://www.ncbi.nlm.nih.gov/pubmed/25606403 http://dx.doi.org/10.1016/j.mgene.2014.01.007 |
_version_ | 1782351859070009344 |
---|---|
author | Georgiou, Theodoros Christopoulos, George Anastasiadou, Violetta Hadjiloizou, Stavros Cregeen, David Jackson, Marie Mavrikiou, Gavriella Kleanthous, Marina Drousiotou, Anthi |
author_facet | Georgiou, Theodoros Christopoulos, George Anastasiadou, Violetta Hadjiloizou, Stavros Cregeen, David Jackson, Marie Mavrikiou, Gavriella Kleanthous, Marina Drousiotou, Anthi |
author_sort | Georgiou, Theodoros |
collection | PubMed |
description | Tay-Sachs disease (TSD) is a recessively inherited neurodegenerative disorder caused by mutations in the HEXA gene resulting in β-hexosaminidase A (HEX A) deficiency and neuronal accumulation of GM2 ganglioside. We describe the first patient with Tay-Sachs disease in the Cypriot population, a juvenile case which presented with developmental regression at the age of five. The diagnosis was confirmed by measurement of HEXA activity in plasma, peripheral leucocytes and fibroblasts. Sequencing the HEXA gene resulted in the identification of two previously described mutations: the nonsense mutation c.78G>A (p.Trp26X) and the silent mutation c.1305C>T (p.=). The silent mutation was reported once before in a juvenile TSD patient of West Indian origin with an unusually mild phenotype. The presence of this mutation in another juvenile TSD patient provides further evidence that it is a disease-causing mutation. Successful preimplantation genetic diagnosis (PGD) and prenatal follow-up were provided to the couple. |
format | Online Article Text |
id | pubmed-4287815 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-42878152015-01-20 The first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78G>A) and a silent (c.1305C>T) mutation and allows preimplantation genetic diagnosis Georgiou, Theodoros Christopoulos, George Anastasiadou, Violetta Hadjiloizou, Stavros Cregeen, David Jackson, Marie Mavrikiou, Gavriella Kleanthous, Marina Drousiotou, Anthi Meta Gene Article Tay-Sachs disease (TSD) is a recessively inherited neurodegenerative disorder caused by mutations in the HEXA gene resulting in β-hexosaminidase A (HEX A) deficiency and neuronal accumulation of GM2 ganglioside. We describe the first patient with Tay-Sachs disease in the Cypriot population, a juvenile case which presented with developmental regression at the age of five. The diagnosis was confirmed by measurement of HEXA activity in plasma, peripheral leucocytes and fibroblasts. Sequencing the HEXA gene resulted in the identification of two previously described mutations: the nonsense mutation c.78G>A (p.Trp26X) and the silent mutation c.1305C>T (p.=). The silent mutation was reported once before in a juvenile TSD patient of West Indian origin with an unusually mild phenotype. The presence of this mutation in another juvenile TSD patient provides further evidence that it is a disease-causing mutation. Successful preimplantation genetic diagnosis (PGD) and prenatal follow-up were provided to the couple. Elsevier 2014-02-19 /pmc/articles/PMC4287815/ /pubmed/25606403 http://dx.doi.org/10.1016/j.mgene.2014.01.007 Text en © 2014 The Authors http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/3.0/). |
spellingShingle | Article Georgiou, Theodoros Christopoulos, George Anastasiadou, Violetta Hadjiloizou, Stavros Cregeen, David Jackson, Marie Mavrikiou, Gavriella Kleanthous, Marina Drousiotou, Anthi The first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78G>A) and a silent (c.1305C>T) mutation and allows preimplantation genetic diagnosis |
title | The first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78G>A) and a silent (c.1305C>T) mutation and allows preimplantation genetic diagnosis |
title_full | The first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78G>A) and a silent (c.1305C>T) mutation and allows preimplantation genetic diagnosis |
title_fullStr | The first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78G>A) and a silent (c.1305C>T) mutation and allows preimplantation genetic diagnosis |
title_full_unstemmed | The first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78G>A) and a silent (c.1305C>T) mutation and allows preimplantation genetic diagnosis |
title_short | The first family with Tay-Sachs disease in Cyprus: Genetic analysis reveals a nonsense (c.78G>A) and a silent (c.1305C>T) mutation and allows preimplantation genetic diagnosis |
title_sort | first family with tay-sachs disease in cyprus: genetic analysis reveals a nonsense (c.78g>a) and a silent (c.1305c>t) mutation and allows preimplantation genetic diagnosis |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287815/ https://www.ncbi.nlm.nih.gov/pubmed/25606403 http://dx.doi.org/10.1016/j.mgene.2014.01.007 |
work_keys_str_mv | AT georgioutheodoros thefirstfamilywithtaysachsdiseaseincyprusgeneticanalysisrevealsanonsensec78gaandasilentc1305ctmutationandallowspreimplantationgeneticdiagnosis AT christopoulosgeorge thefirstfamilywithtaysachsdiseaseincyprusgeneticanalysisrevealsanonsensec78gaandasilentc1305ctmutationandallowspreimplantationgeneticdiagnosis AT anastasiadouvioletta thefirstfamilywithtaysachsdiseaseincyprusgeneticanalysisrevealsanonsensec78gaandasilentc1305ctmutationandallowspreimplantationgeneticdiagnosis AT hadjiloizoustavros thefirstfamilywithtaysachsdiseaseincyprusgeneticanalysisrevealsanonsensec78gaandasilentc1305ctmutationandallowspreimplantationgeneticdiagnosis AT cregeendavid thefirstfamilywithtaysachsdiseaseincyprusgeneticanalysisrevealsanonsensec78gaandasilentc1305ctmutationandallowspreimplantationgeneticdiagnosis AT jacksonmarie thefirstfamilywithtaysachsdiseaseincyprusgeneticanalysisrevealsanonsensec78gaandasilentc1305ctmutationandallowspreimplantationgeneticdiagnosis AT mavrikiougavriella thefirstfamilywithtaysachsdiseaseincyprusgeneticanalysisrevealsanonsensec78gaandasilentc1305ctmutationandallowspreimplantationgeneticdiagnosis AT kleanthousmarina thefirstfamilywithtaysachsdiseaseincyprusgeneticanalysisrevealsanonsensec78gaandasilentc1305ctmutationandallowspreimplantationgeneticdiagnosis AT drousiotouanthi thefirstfamilywithtaysachsdiseaseincyprusgeneticanalysisrevealsanonsensec78gaandasilentc1305ctmutationandallowspreimplantationgeneticdiagnosis AT georgioutheodoros firstfamilywithtaysachsdiseaseincyprusgeneticanalysisrevealsanonsensec78gaandasilentc1305ctmutationandallowspreimplantationgeneticdiagnosis AT christopoulosgeorge firstfamilywithtaysachsdiseaseincyprusgeneticanalysisrevealsanonsensec78gaandasilentc1305ctmutationandallowspreimplantationgeneticdiagnosis AT anastasiadouvioletta firstfamilywithtaysachsdiseaseincyprusgeneticanalysisrevealsanonsensec78gaandasilentc1305ctmutationandallowspreimplantationgeneticdiagnosis AT hadjiloizoustavros firstfamilywithtaysachsdiseaseincyprusgeneticanalysisrevealsanonsensec78gaandasilentc1305ctmutationandallowspreimplantationgeneticdiagnosis AT cregeendavid firstfamilywithtaysachsdiseaseincyprusgeneticanalysisrevealsanonsensec78gaandasilentc1305ctmutationandallowspreimplantationgeneticdiagnosis AT jacksonmarie firstfamilywithtaysachsdiseaseincyprusgeneticanalysisrevealsanonsensec78gaandasilentc1305ctmutationandallowspreimplantationgeneticdiagnosis AT mavrikiougavriella firstfamilywithtaysachsdiseaseincyprusgeneticanalysisrevealsanonsensec78gaandasilentc1305ctmutationandallowspreimplantationgeneticdiagnosis AT kleanthousmarina firstfamilywithtaysachsdiseaseincyprusgeneticanalysisrevealsanonsensec78gaandasilentc1305ctmutationandallowspreimplantationgeneticdiagnosis AT drousiotouanthi firstfamilywithtaysachsdiseaseincyprusgeneticanalysisrevealsanonsensec78gaandasilentc1305ctmutationandallowspreimplantationgeneticdiagnosis |