ZDHHC9 X‐linked intellectual disability: Clinical and molecular characterization

The ZDHHC9 gene encodes the Zinc Finger DHHC‐Type Containing 9 protein that functions as a palmitoyltransferase. Variants in this gene have been reported as the cause of Raymond‐type X‐linked intellectual disability with only 16 families described in the literature. This study reviews molecular and...

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Vydáno v:	American journal of medical genetics. Part A Ročník 191; číslo 2; s. 599 - 604
Hlavní autoři:	Ramos, Anna Karolina Silva, Caldas‐Rosa, Erica Carine Campos, Ferreira, Bárbara Merfort, Versiani, Beatriz Ribeiro, Moretti, Patrícia Natalia, Oliveira, Silviene Fabiana, Pic‐Taylor, Aline, Mazzeu, Juliana F.
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	Hoboken, USA John Wiley & Sons, Inc 01.02.2023 Wiley Subscription Services, Inc
Témata:	Adolescent exome sequencing Exons Exons - genetics Frameshift Mutation Genes, X-Linked - genetics Humans Intellectual disabilities Intellectual Disability - diagnosis Intellectual Disability - genetics Intellectual Disability - metabolism Mutation Palmitoyltransferase Phenotype X‐linked intellectual disability ZDHHC9 Zinc finger proteins ZDHHC9 exome sequencing X-linked intellectual disability
ISSN:	1552-4825, 1552-4833, 1552-4833
On-line přístup:	Získat plný text
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Popis
Shrnutí:	The ZDHHC9 gene encodes the Zinc Finger DHHC‐Type Containing 9 protein that functions as a palmitoyltransferase. Variants in this gene have been reported as the cause of Raymond‐type X‐linked intellectual disability with only 16 families described in the literature. This study reviews molecular and clinical data from previously reported patients and reports the case of a 13‐year‐old patient with a splicing variant in ZDHHC9 presenting intellectual disability, developmental delay, facial dysmorphisms, and skeletal defects. Although intellectual disability and developmental delay with severe speech delay have been reported in all cases with available clinical data, the remaining clinical signs differ significantly between patients. Missense, nonsense, frameshift, and splicing variants, in addition to large exonic deletions, have been described suggesting a loss of function mechanism. Though variants are distributed in almost all exons, most missense and nonsense variants affect arginine residues located in the cytoplasmic domains of this transmembrane protein, suggesting possible mutational hotspots.
Bibliografie:	Funding information Conselho Nacional de Desenvolvimento Científico e Tecnológico; Coordenação de Aperfeiçoamento de Pessoal de Nível Superior; Fundação de Apoio à Pesquisa do Distrito Federal ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 ObjectType-Case Study-2 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	1552-4825 1552-4833 1552-4833
DOI:	10.1002/ajmg.a.63052