FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature
Abstract Background Mutations in the X-linked gene filamin A (FLNA), encoding the actin-binding protein FLNA, cause a wide spectrum of connective tissue, skeletal, cardiovascular and/or gastrointestinal manifestations. Males are typically more severely affected than females with common pre- or perin...
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2018-09-01
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| Series: | BMC Medical Genetics |
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| Online Access: | http://link.springer.com/article/10.1186/s12881-018-0655-0 |
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doaj-d0f83f1afa7b4a4bb15e3385ed6429ce2021-04-02T02:30:28ZengBMCBMC Medical Genetics1471-23502018-09-0119111310.1186/s12881-018-0655-0FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literatureElyssa Cannaerts0Anju Shukla1Mensuda Hasanhodzic2Maaike Alaerts3Dorien Schepers4Lut Van Laer5Katta M. Girisha6Iva Hojsak7Bart Loeys8Aline Verstraeten9Center of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University HospitalDepartment of Medical Genetics, Kasturba Medical College Manipal Academy of Higher EducationDepartment of Endocrinology, Metabolic Diseases and Genetics, University Clinical Center Tuzla, Children’s hospitalCenter of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University HospitalCenter of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University HospitalCenter of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University HospitalDepartment of Medical Genetics, Kasturba Medical College Manipal Academy of Higher EducationReferral Center for Pediatric Gastroenterology and Nutrition, Children’s Hospital Zagreb, University of Zagreb, School of MedicineCenter of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University HospitalCenter of Medical Genetics, Faculty of Medicine and Health Sciences, University of Antwerp and Antwerp University HospitalAbstract Background Mutations in the X-linked gene filamin A (FLNA), encoding the actin-binding protein FLNA, cause a wide spectrum of connective tissue, skeletal, cardiovascular and/or gastrointestinal manifestations. Males are typically more severely affected than females with common pre- or perinatal death. Case presentation We provide a genotype- and phenotype-oriented literature overview of FLNA hemizygous mutations and report on two live-born male FLNA mutation carriers. Firstly, we identified a de novo, missense mutation (c.238C > G, p.(Leu80Val)) in a five-year old Indian boy who presented with periventricular nodular heterotopia, increased skin laxity, joint hypermobility, mitral valve prolapse with regurgitation and marked facial features (e.g. a flat face, orbital fullness, upslanting palpebral fissures and low-set ears). Secondly, we identified two cis-located FLNA mutations (c.7921C > G, p.(Pro2641Ala); c.7923delC, p.(Tyr2642Thrfs*63)) in a Bosnian patient with Ehlers-Danlos syndrome-like features such as skin translucency and joint hypermobility. This patient also presented with brain anomalies, pectus excavatum, mitral valve prolapse, pulmonary hypertension and dilatation of the pulmonary arteries. He died from heart failure in his second year of life. Conclusions These two new cases expand the list of live-born FLNA mutation-positive males with connective tissue disease from eight to ten, contributing to a better knowledge of the genetic and phenotypic spectrum of FLNA-related disease.http://link.springer.com/article/10.1186/s12881-018-0655-0Periventricular nodular heterotopiaLive-born malesFilaminopathyConnective tissue disease |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Elyssa Cannaerts Anju Shukla Mensuda Hasanhodzic Maaike Alaerts Dorien Schepers Lut Van Laer Katta M. Girisha Iva Hojsak Bart Loeys Aline Verstraeten |
| spellingShingle |
Elyssa Cannaerts Anju Shukla Mensuda Hasanhodzic Maaike Alaerts Dorien Schepers Lut Van Laer Katta M. Girisha Iva Hojsak Bart Loeys Aline Verstraeten FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature BMC Medical Genetics Periventricular nodular heterotopia Live-born males Filaminopathy Connective tissue disease |
| author_facet |
Elyssa Cannaerts Anju Shukla Mensuda Hasanhodzic Maaike Alaerts Dorien Schepers Lut Van Laer Katta M. Girisha Iva Hojsak Bart Loeys Aline Verstraeten |
| author_sort |
Elyssa Cannaerts |
| title |
FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature |
| title_short |
FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature |
| title_full |
FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature |
| title_fullStr |
FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature |
| title_full_unstemmed |
FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature |
| title_sort |
flna mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature |
| publisher |
BMC |
| series |
BMC Medical Genetics |
| issn |
1471-2350 |
| publishDate |
2018-09-01 |
| description |
Abstract Background Mutations in the X-linked gene filamin A (FLNA), encoding the actin-binding protein FLNA, cause a wide spectrum of connective tissue, skeletal, cardiovascular and/or gastrointestinal manifestations. Males are typically more severely affected than females with common pre- or perinatal death. Case presentation We provide a genotype- and phenotype-oriented literature overview of FLNA hemizygous mutations and report on two live-born male FLNA mutation carriers. Firstly, we identified a de novo, missense mutation (c.238C > G, p.(Leu80Val)) in a five-year old Indian boy who presented with periventricular nodular heterotopia, increased skin laxity, joint hypermobility, mitral valve prolapse with regurgitation and marked facial features (e.g. a flat face, orbital fullness, upslanting palpebral fissures and low-set ears). Secondly, we identified two cis-located FLNA mutations (c.7921C > G, p.(Pro2641Ala); c.7923delC, p.(Tyr2642Thrfs*63)) in a Bosnian patient with Ehlers-Danlos syndrome-like features such as skin translucency and joint hypermobility. This patient also presented with brain anomalies, pectus excavatum, mitral valve prolapse, pulmonary hypertension and dilatation of the pulmonary arteries. He died from heart failure in his second year of life. Conclusions These two new cases expand the list of live-born FLNA mutation-positive males with connective tissue disease from eight to ten, contributing to a better knowledge of the genetic and phenotypic spectrum of FLNA-related disease. |
| topic |
Periventricular nodular heterotopia Live-born males Filaminopathy Connective tissue disease |
| url |
http://link.springer.com/article/10.1186/s12881-018-0655-0 |
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