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Anticipation in a family with primary familial brain calcification caused by an SLC20A2 variant
Affiliations- Department of Neurology, Mayo Clinic Florida, 4500 San Pablo Road, Jacksonville
- Center for Individualized Medicine, Mayo Clinic Florida, 4500 San Pablo Road, Jacksonville
- Department of Health Science Research, Mayo Clinic Florida, 4500 San Pablo Road, Jacksonville
- Department of Neuroscience, Mayo Clinic Florida, 4500 San Pablo Road, Jacksonville
- Department of Clinical Genomics, Mayo Clinic Florida, 4500 San Pablo Road, Jacksonville
open access
Abstract
To describe a family with primary familial brain calcification (PFBC) due to SLC20A2 variant showing possible genetic anticipation.
Materials and methodsWe conducted historical, genealogical, clinical, and radiologic studies of a family with PFBC. Clinical evaluations including neurological examination and head computed tomography (CT) scans of a proband and her father were performed. They provided additional information regarding other family members. To identify a causative gene variant, we performed whole-exome sequencing for the proband followed by segregation analysis in other affected members using direct sequencing.
ResultsIn this family, nine affected members were identified over four generations. The proband suffered from chronic daily headache including thunderclap headache. We identified an SLC20A2 (c.509delT, p.(Leu170*)) variant in three affected members over three generations. Interestingly, the age of onset became younger as the disease passed through successive generations, suggestive of genetic anticipation.
Conclusions and clinical implicationsFor clinical purpose, it is important to consider thunderclap headache and genetic anticipation in PFBC caused by SLC20A2 variants. Further investigation is required to validate our observation.
Abstract
To describe a family with primary familial brain calcification (PFBC) due to SLC20A2 variant showing possible genetic anticipation.
Materials and methodsWe conducted historical, genealogical, clinical, and radiologic studies of a family with PFBC. Clinical evaluations including neurological examination and head computed tomography (CT) scans of a proband and her father were performed. They provided additional information regarding other family members. To identify a causative gene variant, we performed whole-exome sequencing for the proband followed by segregation analysis in other affected members using direct sequencing.
ResultsIn this family, nine affected members were identified over four generations. The proband suffered from chronic daily headache including thunderclap headache. We identified an SLC20A2 (c.509delT, p.(Leu170*)) variant in three affected members over three generations. Interestingly, the age of onset became younger as the disease passed through successive generations, suggestive of genetic anticipation.
Conclusions and clinical implicationsFor clinical purpose, it is important to consider thunderclap headache and genetic anticipation in PFBC caused by SLC20A2 variants. Further investigation is required to validate our observation.
Keywords
Primary familial brain calcification, Idiopathic basal ganglia calcification, SLC20A2, Anticipation
About this articleTitle
Anticipation in a family with primary familial brain calcification caused by an SLC20A2 variant
Journal
Neurologia i Neurochirurgia Polska
Issue
Pages
386-389
Published online
2018-04-11
Page views
252
Article views/downloads
399
DOI
10.1016/j.pjnns.2018.03.007
Bibliographic record
Neurol Neurochir Pol 2018;52(3):386-389.
Keywords
Primary familial brain calcification
Idiopathic basal ganglia calcification
SLC20A2
Anticipation
Authors
Takuya Konno
Patrick R. Blackburn
Todd D. Rozen
Jay A. van Gerpen
Owen A. Ross
Paldeep S. Atwal
Zbigniew K. Wszolek
