The Experts below are selected from a list of 30243 Experts worldwide ranked by ideXlab platform
Matthias Kirsch - One of the best experts on this subject based on the ideXlab platform.
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A New Variant in the MYH11 Gene in a Familial Case of Thoracic Aortic Aneurysm.
The Annals of Thoracic Surgery, 2019Co-Authors: Lorenzo Pucci, Alexandra Pointet, Jean-marc Good, Emeline Davoine, Viviane Cina, Fabio Zanchi, Lucia Mazzolai Duchosal, Sébastien Déglise, Matthias KirschAbstract:ABSTRACT MYH11 (Myosin Heavy chain 11) gene is involved in vascular contractility and several autosomal dominant mutations, have been linked to TAA. Three male members of the same family were found to carry an heterozygous missense variant, in the MYH11 gene and all of them presented a thoracic aortic aneurysm/dilation. We identified a rare missense variant in the MYH11 gene predicted to be damaging and affecting a conserved amino-acid in the myosin tail of the protein. This variant appears to be responsible for our Familial Case of TAA, as the clinical expression reunited all features of genetic aneurysms.
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A New Variant in the MYH11 Gene in a Familial Case of Thoracic Aortic Aneurysm
The Annals of thoracic surgery, 2019Co-Authors: Lorenzo Pucci, Alexandra Pointet, Jean-marc Good, Emeline Davoine, Viviane Cina, Fabio Zanchi, Lucia Mazzolai Duchosal, Sébastien Déglise, Matthias KirschAbstract:MYH11 (myosin heavy chain 11) gene is involved in vascular contractility and several autosomal dominant mutations have been linked to thoracic aortic aneurysms. Three male members of the same family were found to carry a heterozygous missense variant in the MYH11 gene and all 3 individuals presented a thoracic aortic aneurysm/dilation. We identified a rare missense variant in the MYH11 gene predicted to be damaging and affecting a conserved amino acid in the myosin tail of the protein. This variant appears to be responsible for our Familial Case of thoracic aortic aneurysms, as the clinical expression reunited all features of genetic aneurysms.
Marieclaire Gubler - One of the best experts on this subject based on the ideXlab platform.
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pax2 mutations in renal coloboma syndrome mutational hotspot and germline mosaicism
European Journal of Human Genetics, 2000Co-Authors: Jeanne Amiel, Sophie Audollent, D Joly, Pascal Dureau, Remi Salomon, A L Tellier, Joelle Auge, Francois Bouissou, Corinne Antignac, Marieclaire GublerAbstract:The renal‐coloboma syndrome (RCS, MIM 120330) is an autosomal dominant disorder caused by PAX2 gene mutations. We screened the entire coding sequence of the PAX2 gene for mutations in nine patients with RCS. We found five heterozygous PAX2 gene mutations: a dinucleotide insertion (2G) at position 619 in one sporadic RCS Case, a single nucleotide insertion (619 + G) in three unrelated Cases, and a single nucleotide deletion in a Familial Case. In this Familial Case, three affected sibs showed a striking ocular phenotypic variability. Each of the sibs carried a 619insG mutation, whilst unaffected parents did not, suggesting the presence of germline mosaicism. Interestingly, the 619insG mutation has been previously reported in several patients and is also responsible for the Pax2 1Neu mouse mutant, an animal model of human RCS. This study confirms the critical role of the PAX2 gene in human renal and ocular development. In addition, it emphasises the high variability of ocular defects associated with PAX2 mutations ranging from subtle optic disc anomalies to microphthalmia. Finally, the presence of PAX2 germline mosaicism highlights the difficulties associated with genetic counselling for PAX2 mutations. European Journal of Human Genetics (2000) 8, 820‐826.
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PAX2 mutations in renal–coloboma syndrome: mutational hotspot and germline mosaicism
European Journal of Human Genetics, 2000Co-Authors: Jeanne Amiel, Sophie Audollent, D Joly, Pascal Dureau, Remi Salomon, A L Tellier, Joelle Auge, Francois Bouissou, Corinne Antignac, Marieclaire GublerAbstract:The renal–coloboma syndrome (RCS, MIM 120330) is an autosomal dominant disorder caused by PAX2 gene mutations. We screened the entire coding sequence of the PAX2 gene for mutations in nine patients with RCS. We found five heterozygous PAX2 gene mutations: a dinucleotide insertion (2G) at position 619 in one sporadic RCS Case, a single nucleotide insertion (619 + G) in three unrelated Cases, and a single nucleotide deletion in a Familial Case. In this Familial Case, three affected sibs showed a striking ocular phenotypic variability. Each of the sibs carried a 619insG mutation, whilst unaffected parents did not, suggesting the presence of germline mosaicism. Interestingly, the 619insG mutation has been previously reported in several patients and is also responsible for the Pax2 ^1Neu mouse mutant, an animal model of human RCS. This study confirms the critical role of the PAX2 gene in human renal and ocular development. In addition, it emphasises the high variability of ocular defects associated with PAX2 mutations ranging from subtle optic disc anomalies to microphthalmia. Finally, the presence of PAX2 germline mosaicism highlights the difficulties associated with genetic counselling for PAX2 mutations.
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PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism.
European Journal of Human Genetics, 2000Co-Authors: Jeanne Amiel, Sophie Audollent, D Joly, Pascal Dureau, Remi Salomon, A L Tellier, Joelle Auge, Francois Bouissou, Corinne Antignac, Marieclaire GublerAbstract:The renal-coloboma syndrome (RCS, MIM 120330) is an autosomal dominant disorder caused by PAX2 gene mutations. We screened the entire coding sequence of the PAX2 gene for mutations in nine patients with RCS. We found five heterozygous PAX2 gene mutations: a dinucleotide insertion (2G) at position 619 in one sporadic RCS Case, a single nucleotide insertion (619 + G) in three unrelated Cases, and a single nucleotide deletion in a Familial Case. In this Familial Case, three affected sibs showed a striking ocular phenotypic variability. Each of the sibs carried a 619insG mutation, whilst unaffected parents did not, suggesting the presence of germline mosaicism. Interestingly, the 619insG mutation has been previously reported in several patients and is also responsible for the Pax21Neu mouse mutant, an animal model of human RCS. This study confirms the critical role of the PAX2 gene in human renal and ocular development. In addition, it emphasises the high variability of ocular defects associated with PAX2 mutations ranging from subtle optic disc anomalies to microphthalmia. Finally, the presence of PAX2 germline mosaicism highlights the difficulties associated with genetic counselling for PAX2 mutations.
Lorenzo Pucci - One of the best experts on this subject based on the ideXlab platform.
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A New Variant in the MYH11 Gene in a Familial Case of Thoracic Aortic Aneurysm.
The Annals of Thoracic Surgery, 2019Co-Authors: Lorenzo Pucci, Alexandra Pointet, Jean-marc Good, Emeline Davoine, Viviane Cina, Fabio Zanchi, Lucia Mazzolai Duchosal, Sébastien Déglise, Matthias KirschAbstract:ABSTRACT MYH11 (Myosin Heavy chain 11) gene is involved in vascular contractility and several autosomal dominant mutations, have been linked to TAA. Three male members of the same family were found to carry an heterozygous missense variant, in the MYH11 gene and all of them presented a thoracic aortic aneurysm/dilation. We identified a rare missense variant in the MYH11 gene predicted to be damaging and affecting a conserved amino-acid in the myosin tail of the protein. This variant appears to be responsible for our Familial Case of TAA, as the clinical expression reunited all features of genetic aneurysms.
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A New Variant in the MYH11 Gene in a Familial Case of Thoracic Aortic Aneurysm
The Annals of thoracic surgery, 2019Co-Authors: Lorenzo Pucci, Alexandra Pointet, Jean-marc Good, Emeline Davoine, Viviane Cina, Fabio Zanchi, Lucia Mazzolai Duchosal, Sébastien Déglise, Matthias KirschAbstract:MYH11 (myosin heavy chain 11) gene is involved in vascular contractility and several autosomal dominant mutations have been linked to thoracic aortic aneurysms. Three male members of the same family were found to carry a heterozygous missense variant in the MYH11 gene and all 3 individuals presented a thoracic aortic aneurysm/dilation. We identified a rare missense variant in the MYH11 gene predicted to be damaging and affecting a conserved amino acid in the myosin tail of the protein. This variant appears to be responsible for our Familial Case of thoracic aortic aneurysms, as the clinical expression reunited all features of genetic aneurysms.
Alexandra Pointet - One of the best experts on this subject based on the ideXlab platform.
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A New Variant in the MYH11 Gene in a Familial Case of Thoracic Aortic Aneurysm.
The Annals of Thoracic Surgery, 2019Co-Authors: Lorenzo Pucci, Alexandra Pointet, Jean-marc Good, Emeline Davoine, Viviane Cina, Fabio Zanchi, Lucia Mazzolai Duchosal, Sébastien Déglise, Matthias KirschAbstract:ABSTRACT MYH11 (Myosin Heavy chain 11) gene is involved in vascular contractility and several autosomal dominant mutations, have been linked to TAA. Three male members of the same family were found to carry an heterozygous missense variant, in the MYH11 gene and all of them presented a thoracic aortic aneurysm/dilation. We identified a rare missense variant in the MYH11 gene predicted to be damaging and affecting a conserved amino-acid in the myosin tail of the protein. This variant appears to be responsible for our Familial Case of TAA, as the clinical expression reunited all features of genetic aneurysms.
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A New Variant in the MYH11 Gene in a Familial Case of Thoracic Aortic Aneurysm
The Annals of thoracic surgery, 2019Co-Authors: Lorenzo Pucci, Alexandra Pointet, Jean-marc Good, Emeline Davoine, Viviane Cina, Fabio Zanchi, Lucia Mazzolai Duchosal, Sébastien Déglise, Matthias KirschAbstract:MYH11 (myosin heavy chain 11) gene is involved in vascular contractility and several autosomal dominant mutations have been linked to thoracic aortic aneurysms. Three male members of the same family were found to carry a heterozygous missense variant in the MYH11 gene and all 3 individuals presented a thoracic aortic aneurysm/dilation. We identified a rare missense variant in the MYH11 gene predicted to be damaging and affecting a conserved amino acid in the myosin tail of the protein. This variant appears to be responsible for our Familial Case of thoracic aortic aneurysms, as the clinical expression reunited all features of genetic aneurysms.
Jean-marc Good - One of the best experts on this subject based on the ideXlab platform.
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A New Variant in the MYH11 Gene in a Familial Case of Thoracic Aortic Aneurysm.
The Annals of Thoracic Surgery, 2019Co-Authors: Lorenzo Pucci, Alexandra Pointet, Jean-marc Good, Emeline Davoine, Viviane Cina, Fabio Zanchi, Lucia Mazzolai Duchosal, Sébastien Déglise, Matthias KirschAbstract:ABSTRACT MYH11 (Myosin Heavy chain 11) gene is involved in vascular contractility and several autosomal dominant mutations, have been linked to TAA. Three male members of the same family were found to carry an heterozygous missense variant, in the MYH11 gene and all of them presented a thoracic aortic aneurysm/dilation. We identified a rare missense variant in the MYH11 gene predicted to be damaging and affecting a conserved amino-acid in the myosin tail of the protein. This variant appears to be responsible for our Familial Case of TAA, as the clinical expression reunited all features of genetic aneurysms.
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A New Variant in the MYH11 Gene in a Familial Case of Thoracic Aortic Aneurysm
The Annals of thoracic surgery, 2019Co-Authors: Lorenzo Pucci, Alexandra Pointet, Jean-marc Good, Emeline Davoine, Viviane Cina, Fabio Zanchi, Lucia Mazzolai Duchosal, Sébastien Déglise, Matthias KirschAbstract:MYH11 (myosin heavy chain 11) gene is involved in vascular contractility and several autosomal dominant mutations have been linked to thoracic aortic aneurysms. Three male members of the same family were found to carry a heterozygous missense variant in the MYH11 gene and all 3 individuals presented a thoracic aortic aneurysm/dilation. We identified a rare missense variant in the MYH11 gene predicted to be damaging and affecting a conserved amino acid in the myosin tail of the protein. This variant appears to be responsible for our Familial Case of thoracic aortic aneurysms, as the clinical expression reunited all features of genetic aneurysms.