The third case report a patient with primary aldosteronism, seizures, and neurologic abnormalities (PASNA) syndrome de novo variant mutations in the CACNA1D gene

The site of the Media Sphera Publishers contains materials intended solely for healthcare professionals.
By closing this message, you confirm that you are a certified medical professional or a student of a medical educational institution.

Search result: 0

Semenova N.A.

Altai State Medical University, Ministry of Health of Russia, Barnaul

Ryzhkova O.R.

Research Centre for Medical Genetics, Moscow, Russian Federation

Strokova T.V.

FGBUN «Federal'nyj issledovatel'skij tsentr pitanija, biotehnologii i bezopasnosti pischi», Moskva, Rossija

Taran N.N.

Federal Research Centre of Nutrition and Biotechnology

The third case report a patient with primary aldosteronism, seizures, and neurologic abnormalities (PASNA) syndrome de novo variant mutations in the CACNA1D gene

Authors:

Semenova N.A., Ryzhkova O.R., Strokova T.V., Taran N.N.

More about the authors

Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2018;118(12): 49‑52

DOI: 10.17116/jnevro201811812149

Views: 1626

Downloaded: 42

Download PDF (RU)

Contact the author

Table of contents

To cite this article:

Semenova NA, Ryzhkova OR, Strokova TV, Taran NN. The third case report a patient with primary aldosteronism, seizures, and neurologic abnormalities (PASNA) syndrome de novo variant mutations in the CACNA1D gene. S.S. Korsakov Journal of Neurology and Psychiatry. 2018;118(12):49‑52. (In Russ.)
https://doi.org/10.17116/jnevro201811812149

Подписка 2025-2 (S.S. Korsakov Journal of Neurology and Psychiatry)

Close metadata

Germline mutations in CACNA1D cause the primary aldosteronism, seizures, and neurologic abnormalities (PASNA) syndrome (OMIM# 615474) characterized by primary aldosteronism, seizures and neurological abnormalities. The authors present a case-report of a 1-year 3-month male patient with neurological symptoms such as seizures and global developmental delay with primary hyperaldosteronism. The heterozygosis disease-causing variant c.776T>A in CACNA1D gene was identified.

Keywords:

primary aldosteronism

seizures

and neurologic abnormalities syndrome

CACNA1D gene

Authors:

Semenova N.A.

Altai State Medical University, Ministry of Health of Russia, Barnaul

Ryzhkova O.R.

Research Centre for Medical Genetics, Moscow, Russian Federation

Strokova T.V.

FGBUN «Federal'nyj issledovatel'skij tsentr pitanija, biotehnologii i bezopasnosti pischi», Moskva, Rossija

Taran N.N.

Federal Research Centre of Nutrition and Biotechnology

List of references:

Scholl UI, Goh G, Stölting G, de Oliveira RC, Choi M, Overton JD, Fonseca AL, Korah R, Starker LF, Kunstman JW, Prasad ML, Hartung EA, Mauras N, Benson MR, Brady T, Shapiro JR, Loring E, Nelson-Williams C, Libutti SK, Mane S, Hellman P, Westin G, Åkerström G, Björklund P, Carling T, Fahlke C, Hidalgo P, Lifton RP. Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. Nature Genetics. 2013;45(9):1050-1054. https://doi.org/10.1038/ng.2695
Al-Salameh A, Cohen R, Desailloud R. Overview of the genetic determinants of primary aldosteronism. The Application of Clinical Genetics. 2014;7:67-79. https://doi.org/10.2147/tacg.s45620
Monticone S, Buffolo F, Tetti M, Veglio F, Pasini B, Mulatero P. Genetics in endocrinology: The expanding genetic horizon of primary aldosteronism. Eur J Endocrinol. 2018;178(3):101-111. https://doi.org/10.1530/eje-17-0946
Li H, Durbin R. Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics. 2010;26(5):589-595. https://doi.org/10.1093/bioinformatics/btp698
DePristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, Philippakis AA, del Angel G, Rivas MA, Hanna M, McKenna A, Fennell TJ, Kernytsky AM, Sivachenko AY, Cibulskis K, Gabriel SB, Altshuler D, Daly MJ. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet. 2011;43(5):491-498. https://doi.org/10.1038/ng.806
Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7(4):248-249. https://doi.org/10.1038/nmeth0410-248
Schwarz F, Sager M, Ferrari D, Mihatovic I, Becker J. Letter to the Editor: Authors’ Response. J Periodontol. 2010;81(1):1-2. https://doi.org/10.1902/jop.2009.090512
Choi Y, Sims GE, Murphy S, Miller JR, Chan AP. Predicting the functional effect of amino acid substitutions and indels. PLoS One. 2012;7(10):e46688. https://doi.org/10.1371/journal.pone.0046688
Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009;4(7):1073-1081. https://doi.org/10.1038/nprot.2009.86
Striessnig J, Pinggera A, Kaur G, Bock G, Tuluc P. L-type Ca2+ channels in heart and brain. Wiley Interdiscip Rev Membr Transp Signal. 2014;3(2):15-38. https://doi.org/10.1002/wmts.102
Zamponi GW, Striessnig J, Koschak A, Dolphin AC. The Physiology, Pathology, and Pharmacology of Voltage-Gated Calcium Channels and Their Future Therapeutic Potential. Pharmacol Rev. 2015;67(4):821-870. https://doi.org/10.1124/pr.114.009654
Hirtz JJ, Braun N, Griesemer D, Hannes C, Janz K, Löhrke S, Müller B, Friauf E. Synaptic refinement of an inhibitory topographic map in the auditory brainstem requires functional Cav1.3 calcium channels. J Neurosci. 2012;32(42):14602-14616. https://doi.org/10.1523/jneurosci.0765-12.2012
Kabir ZD, Martínez-Rivera A, Rajadhyaksha AM. From Gene to Behavior: L-Type Calcium Channel Mechanisms Underlying Neuropsychiatric Symptoms. Neurotherapeutics. 2017;14(3):588-613. https://doi.org/10.1007/s13311-017-0532-0
Catterall WA, Dib-Hajj S, Meisler MH, Pietrobon D. Inherited neuronal ion channelopathies: new windows on complex neurological diseases. J Neurosci. 2008;28(46):11768-11777. https://doi.org/10.1523/jneurosci.3901-08.2008
Pinggera A, Striessnig J. Cav1.3 (CACNA1D) L‐type Ca2+ channel dysfunction in CNS disorders. The Journal of Physiology. 2016;594(20):5839-5849. https://doi.org/10.1113/jp270672
Pinggera A, Mackenroth L, Rump A, Schallner J, Beleggia F, Wollnik B, Striessnig J. New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy. Hum Mol Genet. 2017;26(15):2923-2932. https://doi.org/10.1093/hmg/ddx175
Klassen T, Davis C, Goldman A, Burgess D, Chen T, Wheeler D, McPherson J, Bourquin T, Lewis L, Villasana D, Morgan M, Muzny D, Gibbs R & Noebels J. Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy. 2011;145(7):1036-1048. https://doi.org/10.1016/j.cell.2011.05.025

Close metadata

Log in to the site using your account in one of the services

Registration

Last Name

Name

Middle Name

E-mail

Phone

Address

Country

Zip

City

Region

Street

Home

Apartmen

Legal entity name

ИНН

КПП

Password

Password

Repeat password

We use cооkies to improve the performance of the site. By staying on our site, you agree to the terms of use of cооkies. To view our Privacy and Cookie Policy, please. click here.