genetics
medical
microRNA
missense
mutation
nervous system diseases
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
Oct 2022
Oct 2022
Historique:
received:
28
01
2021
accepted:
09
11
2021
pubmed:
22
12
2021
medline:
28
9
2022
entrez:
21
12
2021
Statut:
ppublish
Résumé
High-impact pathogenic variants in more than a thousand genes are involved in Mendelian forms of neurodevelopmental disorders (NDD). This study describes the molecular and clinical characterisation of 28 probands with NDD harbouring heterozygous A total of 15 unique variants leading to amino acid changes or deletions were identified: 12 missense variants, two in-frame deletions of one codon, and one canonical splice variant leading to a deletion of two amino acid residues. Recurrently identified variants were present in several unrelated individuals: p.(Phe180del), p.(Leu190Pro), p.(Leu190Arg), p.(Gly199Ser), p.(Val254Ile) and p.(Glu376del). Our study establishes that de novo coding variants in
Sections du résumé
BACKGROUND
High-impact pathogenic variants in more than a thousand genes are involved in Mendelian forms of neurodevelopmental disorders (NDD).
METHODS
This study describes the molecular and clinical characterisation of 28 probands with NDD harbouring heterozygous
RESULTS
A total of 15 unique variants leading to amino acid changes or deletions were identified: 12 missense variants, two in-frame deletions of one codon, and one canonical splice variant leading to a deletion of two amino acid residues. Recurrently identified variants were present in several unrelated individuals: p.(Phe180del), p.(Leu190Pro), p.(Leu190Arg), p.(Gly199Ser), p.(Val254Ile) and p.(Glu376del).
CONCLUSION
Our study establishes that de novo coding variants in
Identifiants
pubmed: 34930816
pii: jmedgenet-2021-107751
doi: 10.1136/jmedgenet-2021-107751
pmc: PMC9241146
mid: NIHMS1793510
doi:
Substances chimiques
Amino Acids
0
RNA, Messenger
0
AGO1 protein, human
0
Argonaute Proteins
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
965-975Subventions
Organisme : NIAAA NIH HHS
ID : R01 AA026834
Pays : United States
Organisme : NIMH NIH HHS
ID : U01 MH119689
Pays : United States
Informations de copyright
© Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: KMW, ET, FM, AD and MJT are employees of GeneDx. ZP and KM are employees of Ambry Genetics.