Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Comment
. 2023 Jul;31(7):725-729.
doi: 10.1038/s41431-023-01349-1. Epub 2023 Mar 28.

Expanding the phenotype associated with biallelic SLC20A2 variants

Gianluca D'Onofrio #  1   2 , Marcello Scala #  3   4   5 , Mariasavina Severino  6 , Roberta Roberti  7 , Ferruccio Romano  8 , Patrizia De Marco  8 , Michele Iacomino  8 , Simona Baldassari  8 , Paolo Uva  9 , Marco Pavanello  10 , Stefano Gustincich  11 , Pasquale Striano  1   2 , Federico Zara  8 , Valeria Capra  12
Affiliations
Comment

Expanding the phenotype associated with biallelic SLC20A2 variants

Gianluca D'Onofrio et al. Eur J Hum Genet. 2023 Jul.
No abstract available

PubMed Disclaimer

Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1. Brain MR angiography and MRI of the patient performed at 4 years and 3 months of age.
A, B Arterial MR angiography images reveal very severe moyamoya vasculopathy with bilateral stenosis of the terminal internal carotid arteries (thin arrows), absent flow in the middle and anterior cerebral arteries (empty arrows) with signs of bilateral direct and indirect surgical revascularizations (arrowheads). Note the severe stenosis of the apical portion of the basilar artery (dotted arrow). C Axial T2-weighted image shows a chronic arterial ischemic stroke in the left temporo-parieto-occipital regions (thick arrow) with marked white matter volume reduction and consequent ventricular enlargement (asterisk). D Axial T1-weighted image depicts spontaneous hyperintensity of the globi pallidi (black arrowheads), in keeping with mineralization of these regions. E–H Axial susceptibility weighted images with (I–L) corresponding phase maps images demonstrate several scattered calcifications in the right basal ganglia (thick arrow), bilateral frontal cortico-subcortical regions (thin arrows), right profound frontal white matter (arrowheads).
Fig. 2
Fig. 2. Localization of pathogenic SLC20A2 variants in PFBC patients.
Schematic drawing of the SLC20A2 transporter showing the localization of the three biallelic variants (in red) associated with SLC20A2-related PFBC so far, the p.(Arg71Cys) [7], the p.(Tyr187Cys) (our patient) and the p.(Ser570Argfs∗30) [8]. Note that all three biallelic variants do not fall in the transmembrane domains, affecting instead an extracellular and a cytosolic loop.
See this image and copyright information in PMC

Comment on

References

    1. Donzuso G, Mostile G, Nicoletti A, Zappia M. Basal ganglia calcifications (Fahr’s syndrome): related conditions and clinical features. Neurol Sci. 2019;40:2251–63. doi: 10.1007/s10072-019-03998-x. - DOI - PMC - PubMed
    1. de Oliveira DF, de Lemos RR, de Oliveira JR. Mutations at the SLC20A2 gene and brain resilience in families with idiopathic basal ganglia calcification (“Fahr’s disease”) Front Hum Neurosci. 2013;7:420. doi: 10.3389/fnhum.2013.00420. - DOI - PMC - PubMed
    1. Arteche-López A, Álvarez-Mora MI, Sánchez Calvin MT, Lezana Rosales JM, Palma Milla C, Gómez, et al. Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2. Eur J Hum Genet. 2021;29:1520–6. doi: 10.1038/s41431-021-00919-5. - DOI - PMC - PubMed
    1. Ceylan AC, Kireker Köylü O, Özyürek H, Özaydin E, Yön Mİ, Kasapkara ÇS. Homozygous SLC20A2 mutations cause congenital CMV infection-like phenotype. Acta Neurol Belg. 2022. 10.1007/s13760-022-02044-6. - PubMed
    1. Balck A, Schaake S, Kuhnke NS, Domingo A, Madoev H, Margolesky J, et al. Genotype-Phenotype Relations in Primary Familial Brain Calcification: Systematic MDSGene Review. Mov Disord. 2021;36:2468–80. doi: 10.1002/mds.28753. - DOI - PubMed

Publication types

Substances