Publication
Title
FLNA mutations in surviving males presenting with connective tissue findings : two new case reports and review of the literature
Author
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.
Language
English
Source (journal)
BMC medical genetics. - London
Publication
London : Bmc , 2018
ISSN
1471-2350
Volume/pages
19 (2018) , 13 p.
Article Reference
140
ISI
000444233800001
Medium
E-only publicatie
Full text (Publisher's DOI)
Full text (open access)
UAntwerpen
Faculty/Department
Research group
Project info
Application of whole exome sequencing to identify the genetic defect in hereditary connective tissue disorders
Clinical and (patho)genetic study of bicuspid aortic valve and associated aortic aneurysm.
Towards a better understanding of the molecular mechanisms underlying thoracic aortic aneurysms and dissections.
Bicuspid Related Aortopathy, a Vibrant Exploration (BRAVE).
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 07.09.2018
Last edited 11.09.2021
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