De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.
ZBTB47
ZNF651
developmental delay
neurodevelopmental
seizure
zinc finger
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
Jan 2024
Jan 2024
Historique:
revised:
23
08
2023
received:
12
03
2023
accepted:
30
08
2023
medline:
20
12
2023
pubmed:
25
9
2023
entrez:
25
9
2023
Statut:
ppublish
Résumé
The collection of known genetic etiologies of neurodevelopmental disorders continues to increase, including several syndromes associated with defects in zinc finger protein transcription factors (ZNFs) that vary in clinical severity from mild learning disabilities and developmental delay to refractory seizures and severe autism spectrum disorder. Here we describe a new neurodevelopmental disorder associated with variants in ZBTB47 (also known as ZNF651), which encodes zinc finger and BTB domain-containing protein 47. Exome sequencing (ES) was performed for five unrelated patients with neurodevelopmental disorders. All five patients are heterozygous for a de novo missense variant in ZBTB47, with p.(Glu680Gly) (c.2039A>G) detected in one patient and p.(Glu477Lys) (c.1429G>A) identified in the other four patients. Both variants impact conserved amino acid residues. Bioinformatic analysis of each variant is consistent with pathogenicity. We present five unrelated patients with de novo missense variants in ZBTB47 and a phenotype characterized by developmental delay with intellectual disability, seizures, hypotonia, gait abnormalities, and variable movement abnormalities. We propose that these variants in ZBTB47 are the basis of a new neurodevelopmental disorder.
Identifiants
pubmed: 37743782
doi: 10.1002/ajmg.a.63399
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
17-30Subventions
Organisme : NICHD NIH HHS
ID : P50 HD103555
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG007709
Pays : United States
Organisme : NCI NIH HHS
Pays : United States
Organisme : NIH HHS
ID : U01HG007709
Pays : United States
Investigateurs
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)
Ivan Chinn
(I)
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)
Patricia Dickson
(P)
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)
Audrey Stephannie Maghiro
(AS)
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)
Elaine Seto
(E)
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)
Arjun Tarakad
(A)
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 Weisz 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)
Commentaires et corrections
Type : ErratumIn
Informations de copyright
© 2023 Wiley Periodicals LLC.
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