Novel cardiac findings in periventricular nodular heterotopia

John Jefferies, Michael D. Taylor, Joseph Rossano, John W. Belmont, William J. Craigen

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

Periventricular nodular heterotopia (PNH) is a set of neuronal migration disorders that occur during fetal development. Neurons in the brain fail to migrate from the lining of the lateral ventricles to the cortex of the brain. When the neurons fail to migrate, ectopic neuronal nodules form. Epilepsy is a common symptomof PNH. The majority of PNHcases appear to be due to mutations in filamin A, an X-linked gene. Most of the affected individuals are female because affected males typically die in utero. Filamin A anchors integral membrane proteins to the cytoskeleton by binding actin filaments in the cytoplasm. Both animal andhumanstudies indicate that filamin A also plays a role in blood vessel development. In this report, we describe novel cardiac findings in an 18-month-old girl with PNH associated with a nonsense mutation in FLNA, including a dysplastic pulmonary valve and clefting of the mitral valve. These findings broaden the range of cardiac anomalies associated with filamin A mutations to include abnormality of the pulmonary valve and clefting of the mitral valve, consistent with a role for filamin A in valve leaflet development.

Original languageEnglish (US)
Pages (from-to)165-168
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume152
Issue number1
DOIs
StatePublished - Jan 1 2010
Externally publishedYes

Fingerprint

Periventricular Nodular Heterotopia
Filamins
Pulmonary Valve
Mitral Valve
Group II Malformations of Cortical Development
Neurons
X-Linked Genes
Mutation
Nonsense Codon
Lateral Ventricles
Brain
Fetal Development
Cytoskeleton
Actin Cytoskeleton
Blood Vessels
Epilepsy
Membrane Proteins
Cytoplasm

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)
  • Genetics

Cite this

Novel cardiac findings in periventricular nodular heterotopia. / Jefferies, John; Taylor, Michael D.; Rossano, Joseph; Belmont, John W.; Craigen, William J.

In: American Journal of Medical Genetics, Part A, Vol. 152, No. 1, 01.01.2010, p. 165-168.

Research output: Contribution to journalArticle

Jefferies, John ; Taylor, Michael D. ; Rossano, Joseph ; Belmont, John W. ; Craigen, William J. / Novel cardiac findings in periventricular nodular heterotopia. In: American Journal of Medical Genetics, Part A. 2010 ; Vol. 152, No. 1. pp. 165-168.
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