LINKED syndrome
OTUD5
X-linked intellectual disability
congenital malformation
deubiquitinase
Journal
Frontiers in cell and developmental biology
ISSN: 2296-634X
Titre abrégé: Front Cell Dev Biol
Pays: Switzerland
ID NLM: 101630250
Informations de publication
Date de publication:
2021
2021
Historique:
received:
23
11
2020
accepted:
25
01
2021
entrez:
22
3
2021
pubmed:
23
3
2021
medline:
23
3
2021
Statut:
epublish
Résumé
X-linked intellectual disability (XLID), which occurs predominantly in males, is a relatively common and genetically heterogeneous disorder in which over 100 mutated genes have been reported. The We investigated three affected males (49- and 47-year-old brothers [Individuals 1 and 2] and a 2-year-old boy [Individual 3]) from two families who showed developmental delay. Their common clinical features included developmental delay, hypotonia, short stature, and distinctive facial features, such as telecanthus and a depressed nasal bridge. Individuals 1 and 2 showed epilepsy and brain magnetic resonance imaging showed a thin corpus callosum and mild ventriculomegaly. Individual 3 showed congenital malformations, including tetralogy of Fallot, hypospadias, and bilateral cryptorchidism. To identify the genetic cause of these features, we performed whole-exome sequencing. A hemizygous Unlike previous reports of LINKED syndrome, which described early lethality with congenital cardiac anomalies, our three cases are still alive. Notably, the adult brothers with the novel missense
Sections du résumé
BACKGROUND
BACKGROUND
X-linked intellectual disability (XLID), which occurs predominantly in males, is a relatively common and genetically heterogeneous disorder in which over 100 mutated genes have been reported. The
METHODS
METHODS
We investigated three affected males (49- and 47-year-old brothers [Individuals 1 and 2] and a 2-year-old boy [Individual 3]) from two families who showed developmental delay. Their common clinical features included developmental delay, hypotonia, short stature, and distinctive facial features, such as telecanthus and a depressed nasal bridge. Individuals 1 and 2 showed epilepsy and brain magnetic resonance imaging showed a thin corpus callosum and mild ventriculomegaly. Individual 3 showed congenital malformations, including tetralogy of Fallot, hypospadias, and bilateral cryptorchidism. To identify the genetic cause of these features, we performed whole-exome sequencing.
RESULTS
RESULTS
A hemizygous
CONCLUSIONS
CONCLUSIONS
Unlike previous reports of LINKED syndrome, which described early lethality with congenital cardiac anomalies, our three cases are still alive. Notably, the adult brothers with the novel missense
Identifiants
pubmed: 33748114
doi: 10.3389/fcell.2021.631428
pmc: PMC7965969
doi:
Types de publication
Journal Article
Langues
eng
Pagination
631428Informations de copyright
Copyright © 2021 Saida, Fukuda, Scott, Sengoku, Ogata, Nicosia, Hernandez-Garcia, Lalani, Azamian, Streff, Liu, Dai, Mizuguchi, Miyatake, Asahina, Ogata, Miyake and Matsumoto.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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