and neonatal diseases and abnormalities
central nervous system diseases
cerebellar diseases
congenital
early diagnosis
genetic variation
hereditary
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
Sep 2022
Sep 2022
Historique:
received:
30
07
2021
accepted:
29
09
2021
pubmed:
23
10
2021
medline:
24
8
2022
entrez:
22
10
2021
Statut:
ppublish
Résumé
Joubert syndrome (JS) is a recessively inherited ciliopathy characterised by congenital ocular motor apraxia (COMA), developmental delay (DD), intellectual disability, ataxia, multiorgan involvement, and a unique cerebellar and brainstem malformation. Over 40 JS-associated genes are known with a diagnostic yield of 60%-75%.In 2018, we reported homozygous hypomorphic missense variants of the We reanalysed next generation sequencing (NGS) data in two cohorts comprising 1097 probands referred for genetic testing of JS genes. Heterozygous truncating and splice-site Heterozygous truncating or splice-site
Sections du résumé
BACKGROUND
Joubert syndrome (JS) is a recessively inherited ciliopathy characterised by congenital ocular motor apraxia (COMA), developmental delay (DD), intellectual disability, ataxia, multiorgan involvement, and a unique cerebellar and brainstem malformation. Over 40 JS-associated genes are known with a diagnostic yield of 60%-75%.In 2018, we reported homozygous hypomorphic missense variants of the
METHODS
We reanalysed next generation sequencing (NGS) data in two cohorts comprising 1097 probands referred for genetic testing of JS genes.
RESULTS
Heterozygous truncating and splice-site
CONCLUSION
Heterozygous truncating or splice-site
Identifiants
pubmed: 34675124
pii: jmedgenet-2021-108114
doi: 10.1136/jmedgenet-2021-108114
pmc: PMC9411896
doi:
Substances chimiques
Repressor Proteins
0
SUFU protein, human
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
888-894Subventions
Organisme : NICHD NIH HHS
ID : U54 HD083091
Pays : United States
Organisme : NICHD NIH HHS
ID : R01 HD100730
Pays : United States
Organisme : NICHD NIH HHS
ID : P50 HD103524
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG011744
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS064077
Pays : United States
Investigateurs
M J Bamshad
(MJ)
S M Leal
(SM)
D A Nickerson
(DA)
P Anderson
(P)
T J Bacus
(TJ)
E E Blue
(EE)
K Brower
(K)
K J Buckingham
(KJ)
J X Chong
(JX)
D Cornejo Sánchez
(D)
C P Davis
(CP)
C J Davis
(CJ)
C D Frazar
(CD)
K Gomeztagle-Burgess
(K)
W W Gordon
(WW)
M Horike-Pyne
(M)
J R Hurless
(JR)
G P Jarvik
(GP)
E Johanson
(E)
J T Kolar
(JT)
C T Marvin
(CT)
S McGee
(S)
D J McGoldrick
(DJ)
B Mekonnen
(B)
P M Nielsen
(PM)
K Patterson
(K)
A Radhakrishnan
(A)
M A Richardson
(MA)
G T Roote
(GT)
E L Ryke
(EL)
I Schrauwen
(I)
K M Shively
(KM)
J D Smith
(JD)
M Tackett
(M)
G Wang
(G)
J M Weiss
(JM)
M M Wheeler
(MM)
Q Yi
(Q)
X Zhang
(X)
Informations de copyright
© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.
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