Unusual variability of PRRT2 linked phenotypes within a family

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• 作者：Frieder Brueckner^a ; ^{friederbrueckner@gmail.com" class="auth_mail} ; Bernhard Kohl^a ; Burkhard Puest^a ; Silke Gassner^a ; Judith Osseforth^b ; Matthias Lindenau^b ; Stefan Stodieck^b ; Saskia Biskup^c ; ^d ; Ebba Lohmann^b ; ^c ; ^d ; ^e
• 关键词：PRRT2 ; Mutation ; Paroxysmal kinesigenic dyskinesias ; Phenotype ; Asymptomatic mutation carrier ; Benign infantile familial convulsions
• 刊名：European Journal of Paediatric Neurology
• 出版年：July 2014
• 年：2014
• 卷：18
• 期：4
• 页码：540-542
• 全文大小：294 K

文摘

Mutations in the proline-rich transmembrane protein 2 (PRRT2) gene on chromosome 16p11.2 have recently been identified as a cause of paroxysmal kinesigenic dyskinesias (PKD), infantile convulsions and choreoathetosis (ICCA) syndrome or infantile convulsions (IC).

Aims

Here, we describe a family with four affected members. They all suffer from different diseases: febrile convulsion, epileptic seizures, PKD or headache.

Methods

The whole coding region of PRRT2 gene has been analyzed.

Results

Molecular testing revealed the PRRT2 gene mutation c649.delC in exon 2 for all three sibs as well as for the mother.

Conclusion

Our presented family case shows the great variability within PRRT2 linked phenotypes even within the same family. Further and more detailed studies will be needed before genetic findings enter into the daily diagnostic and the daily genetic counseling with all its consequences.