Two novel presentations of KCNMA1‐related pathology––Expanding the clinical phenotype of a rare channelopathy
Abstract Background KCNMA1 mutations have recently been associated with a wide range of dysmorphological, gastro‐intestinal, cardiovascular, and neurological manifestations. Methods Whole exome sequencing was performed in order to identify the underlying pathogenic mutation in two cases presenting w...
Guardado en:
| Autores principales: | , , , , , , , , , , , , |
|---|---|
| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Wiley
2021
|
| Materias: | |
| Acceso en línea: | https://doaj.org/article/0ca074ff445a4ee0bbde97fd27f87418 |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
| id |
oai:doaj.org-article:0ca074ff445a4ee0bbde97fd27f87418 |
|---|---|
| record_format |
dspace |
| spelling |
oai:doaj.org-article:0ca074ff445a4ee0bbde97fd27f874182021-11-10T16:39:24ZTwo novel presentations of KCNMA1‐related pathology––Expanding the clinical phenotype of a rare channelopathy2324-926910.1002/mgg3.1797https://doaj.org/article/0ca074ff445a4ee0bbde97fd27f874182021-10-01T00:00:00Zhttps://doi.org/10.1002/mgg3.1797https://doaj.org/toc/2324-9269Abstract Background KCNMA1 mutations have recently been associated with a wide range of dysmorphological, gastro‐intestinal, cardiovascular, and neurological manifestations. Methods Whole exome sequencing was performed in order to identify the underlying pathogenic mutation in two cases presenting with diverse phenotypical manifestations that did not fit into well‐known clinical entities. Results In an 8‐year‐old boy presenting with severe aortic dilatation, facial dysmorphism, and overgrowth at birth a de novo p.Gly375Arg KCNMA1 mutation was identified which has been reported previously in association with gingival hypertrophy, aortic dilatation, and developmental delay. Additionally, in a 30‐week‐old fetus with severe growth retardation and duodenal atresia a de novo p.Pro805Leu KCNMA1 mutation was identified. The latter has also been reported before in a boy with severe neurological manifestations, including speech delay, developmental delay, and cerebellar dysfunction. Conclusion The current report presents the first antenatal presentation of a pathogenic KCNMA1 mutation and confirms the specific association of the p.Gly375Arg variant with early onset aortic root dilatation, gingival hypertrophy, and neonatal overgrowth.Jotte Rodrigues BentoCandice FebenMarlies KempersMaartje vanRijMallory WoiskiKoenraad DevriendtLuc De CatteMarcella BaldewijnsMaaike AlaertsJosephina MeesterAline VerstraetenWilly HendsonBart LoeysWileyarticlechannelopathyKCNMA1 loss‐of‐functionLiang‐Wang syndromethoracic aortic aneurysmGeneticsQH426-470ENMolecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
channelopathy KCNMA1 loss‐of‐function Liang‐Wang syndrome thoracic aortic aneurysm Genetics QH426-470 |
| spellingShingle |
channelopathy KCNMA1 loss‐of‐function Liang‐Wang syndrome thoracic aortic aneurysm Genetics QH426-470 Jotte Rodrigues Bento Candice Feben Marlies Kempers Maartje vanRij Mallory Woiski Koenraad Devriendt Luc De Catte Marcella Baldewijns Maaike Alaerts Josephina Meester Aline Verstraeten Willy Hendson Bart Loeys Two novel presentations of KCNMA1‐related pathology––Expanding the clinical phenotype of a rare channelopathy |
| description |
Abstract Background KCNMA1 mutations have recently been associated with a wide range of dysmorphological, gastro‐intestinal, cardiovascular, and neurological manifestations. Methods Whole exome sequencing was performed in order to identify the underlying pathogenic mutation in two cases presenting with diverse phenotypical manifestations that did not fit into well‐known clinical entities. Results In an 8‐year‐old boy presenting with severe aortic dilatation, facial dysmorphism, and overgrowth at birth a de novo p.Gly375Arg KCNMA1 mutation was identified which has been reported previously in association with gingival hypertrophy, aortic dilatation, and developmental delay. Additionally, in a 30‐week‐old fetus with severe growth retardation and duodenal atresia a de novo p.Pro805Leu KCNMA1 mutation was identified. The latter has also been reported before in a boy with severe neurological manifestations, including speech delay, developmental delay, and cerebellar dysfunction. Conclusion The current report presents the first antenatal presentation of a pathogenic KCNMA1 mutation and confirms the specific association of the p.Gly375Arg variant with early onset aortic root dilatation, gingival hypertrophy, and neonatal overgrowth. |
| format |
article |
| author |
Jotte Rodrigues Bento Candice Feben Marlies Kempers Maartje vanRij Mallory Woiski Koenraad Devriendt Luc De Catte Marcella Baldewijns Maaike Alaerts Josephina Meester Aline Verstraeten Willy Hendson Bart Loeys |
| author_facet |
Jotte Rodrigues Bento Candice Feben Marlies Kempers Maartje vanRij Mallory Woiski Koenraad Devriendt Luc De Catte Marcella Baldewijns Maaike Alaerts Josephina Meester Aline Verstraeten Willy Hendson Bart Loeys |
| author_sort |
Jotte Rodrigues Bento |
| title |
Two novel presentations of KCNMA1‐related pathology––Expanding the clinical phenotype of a rare channelopathy |
| title_short |
Two novel presentations of KCNMA1‐related pathology––Expanding the clinical phenotype of a rare channelopathy |
| title_full |
Two novel presentations of KCNMA1‐related pathology––Expanding the clinical phenotype of a rare channelopathy |
| title_fullStr |
Two novel presentations of KCNMA1‐related pathology––Expanding the clinical phenotype of a rare channelopathy |
| title_full_unstemmed |
Two novel presentations of KCNMA1‐related pathology––Expanding the clinical phenotype of a rare channelopathy |
| title_sort |
two novel presentations of kcnma1‐related pathology––expanding the clinical phenotype of a rare channelopathy |
| publisher |
Wiley |
| publishDate |
2021 |
| url |
https://doaj.org/article/0ca074ff445a4ee0bbde97fd27f87418 |
| work_keys_str_mv |
AT jotterodriguesbento twonovelpresentationsofkcnma1relatedpathologyexpandingtheclinicalphenotypeofararechannelopathy AT candicefeben twonovelpresentationsofkcnma1relatedpathologyexpandingtheclinicalphenotypeofararechannelopathy AT marlieskempers twonovelpresentationsofkcnma1relatedpathologyexpandingtheclinicalphenotypeofararechannelopathy AT maartjevanrij twonovelpresentationsofkcnma1relatedpathologyexpandingtheclinicalphenotypeofararechannelopathy AT mallorywoiski twonovelpresentationsofkcnma1relatedpathologyexpandingtheclinicalphenotypeofararechannelopathy AT koenraaddevriendt twonovelpresentationsofkcnma1relatedpathologyexpandingtheclinicalphenotypeofararechannelopathy AT lucdecatte twonovelpresentationsofkcnma1relatedpathologyexpandingtheclinicalphenotypeofararechannelopathy AT marcellabaldewijns twonovelpresentationsofkcnma1relatedpathologyexpandingtheclinicalphenotypeofararechannelopathy AT maaikealaerts twonovelpresentationsofkcnma1relatedpathologyexpandingtheclinicalphenotypeofararechannelopathy AT josephinameester twonovelpresentationsofkcnma1relatedpathologyexpandingtheclinicalphenotypeofararechannelopathy AT alineverstraeten twonovelpresentationsofkcnma1relatedpathologyexpandingtheclinicalphenotypeofararechannelopathy AT willyhendson twonovelpresentationsofkcnma1relatedpathologyexpandingtheclinicalphenotypeofararechannelopathy AT bartloeys twonovelpresentationsofkcnma1relatedpathologyexpandingtheclinicalphenotypeofararechannelopathy |
| _version_ |
1718439841974190080 |