Array CGH
Autism
Exome sequencing
Intellectual disability
Microcephaly
TRAPPC9
Journal
Molecular syndromology
ISSN: 1661-8769
Titre abrégé: Mol Syndromol
Pays: Switzerland
ID NLM: 101525192
Informations de publication
Date de publication:
Dec 2023
Dec 2023
Historique:
received:
18
03
2023
accepted:
05
06
2023
pmc-release:
01
06
2024
medline:
7
12
2023
pubmed:
7
12
2023
entrez:
7
12
2023
Statut:
ppublish
Résumé
Hereditary forms of intellectual disability (ID), an estimated prevalence ranging between 1% and 3% in the general population, are among the most important problems in health care. Especially, autosomal-recessive ID has a very heterogeneous molecular basis and a lack of specific phenotypic features. Here, we report on two unrelated patients with autosomal-recessive ID, microcephaly, and autistic features and review the patients with TRAPPC9-related ID. Whole-exome sequencing and array CGH were performed for molecular diagnosis of the patients. The first case has a microdeletion on chromosome 8q24.23-q24.3 region which is 1.7 Mb in length and includes the last 5 exons of Our study showed that the most consistent clinical findings for TRAPPC9-related ID are ID, microcephaly, and some structural brain MRI abnormalities. The mutations in the
Identifiants
pubmed: 38058760
doi: 10.1159/000531439
pii: 531439
pmc: PMC10697769
doi:
Types de publication
Journal Article
Langues
eng
Pagination
485-492Informations de copyright
© 2023 S. Karger AG, Basel.
Déclaration de conflit d'intérêts
The authors declare that there are no potential conflicts of interest with respect to the authorship and/or publication of this manuscript.
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