Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Journal
Annals of clinical and translational neurology
ISSN: 2328-9503
Titre abrégé: Ann Clin Transl Neurol
Pays: United States
ID NLM: 101623278
Informations de publication
Date de publication:
06 2023
06 2023
Historique:
revised:
29
03
2023
received:
30
01
2023
accepted:
15
04
2023
medline:
19
6
2023
pubmed:
17
5
2023
entrez:
17
5
2023
Statut:
ppublish
Résumé
SLC1A4 is a trimeric neutral amino acid transporter essential for shuttling L-serine from astrocytes into neurons. Individuals with biallelic variants in SLC1A4 are known to have spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) syndrome, but individuals with heterozygous variants are not thought to have disease. We identify an 8-year-old patient with global developmental delay, spasticity, epilepsy, and microcephaly who has a de novo heterozygous three amino acid duplication in SLC1A4 (L86_M88dup). We demonstrate that L86_M88dup causes a dominant-negative N-glycosylation defect of SLC1A4, which in turn reduces the plasma membrane localization of SLC1A4 and the transport rate of SLC1A4 for L-serine.
Identifiants
pubmed: 37194416
doi: 10.1002/acn3.51786
pmc: PMC10270265
doi:
Substances chimiques
Serine
452VLY9402
SLC1A4 protein, human
0
Amino Acid Transport System ASC
0
Types de publication
Case Reports
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1046-1053Subventions
Organisme : NIH HHS
ID : DP5 OD029630
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG010233
Pays : United States
Organisme : NHGRI NIH HHS
ID : UM1 HG006493
Pays : United States
Investigateurs
Michael J Bamshad
(MJ)
Suzanne M Leal
(SM)
Deborah A Nickerson
(DA)
Peter Anderson
(P)
Tamara J Bacus
(TJ)
Elizabeth E Blue
(EE)
Katherine Brower
(K)
Kati J Buckingham
(KJ)
Jessica X Chong
(JX)
Diana Cornejo Sánchez
(DC)
Colleen P Davis
(CP)
Chayna J Davis
(CJ)
Christian D Frazar
(CD)
Katherine Gomeztagle-Burgess
(K)
William W Gordon
(WW)
Martha Horike-Pyne
(M)
Jameson R Hurless
(JR)
Gail P Jarvik
(GP)
Eric Johanson
(E)
J Thomas Kolar
(JT)
Colby T Marvin
(CT)
Sean McGee
(S)
Daniel J McGoldrick
(DJ)
Betselote Mekonnen
(B)
Patrick M Nielsen
(PM)
Karynne Patterson
(K)
Aparna Radhakrishnan
(A)
Matthew A Richardson
(MA)
Gwendolin T Roote
(GT)
Erica L Ryke
(EL)
Isabelle Schrauwen
(I)
Kathryn M Shively
(KM)
Joshua D Smith
(JD)
Monica Tackett
(M)
Gao Wang
(G)
Jeffrey M Weiss
(JM)
Marsha M Wheeler
(MM)
Qian Yi
(Q)
Xiaohong Zhang
(X)
Maria T Acosta
(MT)
Margaret Adam
(M)
David R Adams
(DR)
Raquel L Alvarez
(RL)
Justin Alvey
(J)
Laura Amendola
(L)
Ashley Andrews
(A)
Euan A Ashley
(EA)
Carlos A Bacino
(CA)
Guney Bademci
(G)
Ashok Balasubramanyam
(A)
Dustin Baldridge
(D)
Jim Bale
(J)
Michael Bamshad
(M)
Deborah Barbouth
(D)
Pinar Bayrak-Toydemir
(P)
Anita Beck
(A)
Alan H Beggs
(AH)
Edward Behrens
(E)
Gill Bejerano
(G)
Hugo J Bellen
(HJ)
Jimmy Bennett
(J)
Beverly Berg-Rood
(B)
Jonathan A Bernstein
(JA)
Gerard T Berry
(GT)
Anna Bican
(A)
Stephanie Bivona
(S)
Elizabeth Blue
(E)
John Bohnsack
(J)
Devon Bonner
(D)
Lorenzo Botto
(L)
Brenna Boyd
(B)
Lauren C Briere
(LC)
Gabrielle Brown
(G)
Elizabeth A Burke
(EA)
Lindsay C Burrage
(LC)
Manish J Butte
(MJ)
Peter Byers
(P)
William E Byrd
(WE)
John Carey
(J)
Olveen Carrasquillo
(O)
Thomas Cassini
(T)
Ta Chen Peter Chang
(TCP)
Sirisak Chanprasert
(S)
Hsiao-Tuan Chao
(HT)
Gary D Clark
(GD)
Terra R Coakley
(TR)
Laurel A Cobban
(LA)
Joy D Cogan
(JD)
Matthew Coggins
(M)
F Sessions Cole
(FS)
Heather A Colley
(HA)
Heidi Cope
(H)
Rosario Corona
(R)
William J Craigen
(WJ)
Andrew B Crouse
(AB)
Michael Cunningham
(M)
Precilla D'Souza
(P)
Hongzheng Dai
(H)
Surendra Dasari
(S)
Joie Davis
(J)
Jyoti G Dayal
(JG)
Esteban C Dell'Angelica
(EC)
Katrina Dipple
(K)
Daniel Doherty
(D)
Naghmeh Dorrani
(N)
Argenia L Doss
(AL)
Emilie D Douine
(ED)
Dawn Earl
(D)
David J Eckstein
(DJ)
Lisa T Emrick
(LT)
Christine M Eng
(CM)
Marni Falk
(M)
Elizabeth L Fieg
(EL)
Paul G Fisher
(PG)
Brent L Fogel
(BL)
Irman Forghani
(I)
William A Gahl
(WA)
Ian Glass
(I)
Bernadette Gochuico
(B)
Page C Goddard
(PC)
Rena A Godfrey
(RA)
Katie Golden-Grant
(K)
Alana Grajewski
(A)
Don Hadley
(D)
Sihoun Hahn
(S)
Meghan C Halley
(MC)
Rizwan Hamid
(R)
Kelly Hassey
(K)
Nichole Hayes
(N)
Frances High
(F)
Anne Hing
(A)
Fuki M Hisama
(FM)
Ingrid A Holm
(IA)
Jason Hom
(J)
Martha Horike-Pyne
(M)
Alden Huang
(A)
Sarah Hutchison
(S)
Wendy Introne
(W)
Rosario Isasi
(R)
Kosuke Izumi
(K)
Fariha Jamal
(F)
Gail P Jarvik
(GP)
Jeffrey Jarvik
(J)
Suman Jayadev
(S)
Orpa Jean-Marie
(O)
Vaidehi Jobanputra
(V)
Lefkothea Karaviti
(L)
Shamika Ketkar
(S)
Dana Kiley
(D)
Gonench Kilich
(G)
Shilpa N Kobren
(SN)
Isaac S Kohane
(IS)
Jennefer N Kohler
(JN)
Susan Korrick
(S)
Mary Kozuira
(M)
Deborah Krakow
(D)
Donna M Krasnewich
(DM)
Elijah Kravets
(E)
Seema R Lalani
(SR)
Byron Lam
(B)
Christina Lam
(C)
Brendan C Lanpher
(BC)
Ian R Lanza
(IR)
Kimberly LeBlanc
(K)
Brendan H Lee
(BH)
Roy Levitt
(R)
Richard A Lewis
(RA)
Pengfei Liu
(P)
Xue Zhong Liu
(XZ)
Nicola Longo
(N)
Sandra K Loo
(SK)
Joseph Loscalzo
(J)
Richard L Maas
(RL)
Ellen F Macnamara
(EF)
Calum A MacRae
(CA)
Valerie V Maduro
(VV)
AudreyStephannie Maghiro
(A)
Rachel Mahoney
(R)
May Christine V Malicdan
(MCV)
Laura A Mamounas
(LA)
Teri A Manolio
(TA)
Rong Mao
(R)
Kenneth Maravilla
(K)
Ronit Marom
(R)
Gabor Marth
(G)
Beth A Martin
(BA)
Martin G Martin
(MG)
Julian A Martínez-Agosto
(JA)
Shruti Marwaha
(S)
Jacob McCauley
(J)
Allyn McConkie-Rosell
(A)
Alexa T McCray
(AT)
Elisabeth McGee
(E)
Heather Mefford
(H)
J Lawrence Merritt
(JL)
Matthew Might
(M)
Ghayda Mirzaa
(G)
Eva Morava
(E)
Paolo Moretti
(P)
John Mulvihill
(J)
Mariko Nakano-Okuno
(M)
Stanley F Nelson
(SF)
John H Newman
(JH)
Sarah K Nicholas
(SK)
Deborah Nickerson
(D)
Shirley Nieves-Rodriguez
(S)
Donna Novacic
(D)
Devin Oglesbee
(D)
James P Orengo
(JP)
Laura Pace
(L)
Stephen Pak
(S)
J Carl Pallais
(JC)
Christina G S Palmer
(CGS)
Jeanette C Papp
(JC)
Neil H Parker
(NH)
John A Phillips
(JA)
Jennifer E Posey
(JE)
Lorraine Potocki
(L)
Barbara N Pusey Swerdzewski
(BN)
Aaron Quinlan
(A)
Deepak A Rao
(DA)
Anna Raper
(A)
Wendy Raskind
(W)
Genecee Renteria
(G)
Chloe M Reuter
(CM)
Lynette Rives
(L)
Amy K Robertson
(AK)
Lance H Rodan
(LH)
Jill A Rosenfeld
(JA)
Natalie Rosenwasser
(N)
Francis Rossignol
(F)
Maura Ruzhnikov
(M)
Ralph Sacco
(R)
Jacinda B Sampson
(JB)
Mario Saporta
(M)
Judy Schaechter
(J)
Timothy Schedl
(T)
Kelly Schoch
(K)
Daryl A Scott
(DA)
C Ron Scott
(CR)
Vandana Shashi
(V)
Jimann Shin
(J)
Edwin K Silverman
(EK)
Janet S Sinsheimer
(JS)
Kathy Sisco
(K)
Edward C Smith
(EC)
Kevin S Smith
(KS)
Lilianna Solnica-Krezel
(L)
Ben Solomon
(B)
Rebecca C Spillmann
(RC)
Joan M Stoler
(JM)
Kathleen Sullivan
(K)
Jennifer A Sullivan
(JA)
Angela Sun
(A)
Shirley Sutton
(S)
David A Sweetser
(DA)
Virginia Sybert
(V)
Holly K Tabor
(HK)
Queenie K-G Tan
(QK)
Amelia L M Tan
(ALM)
Mustafa Tekin
(M)
Fred Telischi
(F)
Willa Thorson
(W)
Cynthia J Tifft
(CJ)
Camilo Toro
(C)
Alyssa A Tran
(AA)
Rachel A Ungar
(RA)
Tiina K Urv
(TK)
Adeline Vanderver
(A)
Matt Velinder
(M)
Dave Viskochil
(D)
Tiphanie P Vogel
(TP)
Colleen E Wahl
(CE)
Melissa Walker
(M)
Stephanie Wallace
(S)
Nicole M Walley
(NM)
Jennifer Wambach
(J)
Jijun Wan
(J)
Lee-Kai Wang
(LK)
Michael F Wangler
(MF)
Patricia A Ward
(PA)
Daniel Wegner
(D)
Monika W Hubshman
(MW)
Mark Wener
(M)
Tara Wenger
(T)
Monte Westerfield
(M)
Matthew T Wheeler
(MT)
Jordan Whitlock
(J)
Lynne A Wolfe
(LA)
Kim Worley
(K)
Changrui Xiao
(C)
Shinya Yamamoto
(S)
John Yang
(J)
Zhe Zhang
(Z)
Stephan Zuchner
(S)
Informations de copyright
© 2023 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.
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