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Article

Homozygous deletion in TUSC3 causing syndromic intellectual disability: a new patient.

American journal of medical genetics. Part A - 1 Aug 2013

Loddo Sara, Parisi Valentina, Doccini Viola, Filippi Tiziana, Bernardini Laura, Brovedani Paola, Ricci Federica, Novelli Antonio, Battaglia Agatino

Abstract excerpt

Defects in the TUSC3 gene have been identified in individuals with nonsyndromic autosomal recessive intellectual disability (ARID), due to either point mutations or intragenic deletions. We report on a boy with a homozygous microdeletion 8p22, sizing 203 kb, encompassing the first exon of the TUSC3 gene, detected by SNP-array analysis (Human Gene Chip 6.0; Affymetrix). Both nonconsanguineous parents come from a...

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Share to Chromosomes, Human, Pair 8
Share to Comparative Genomic Hybridization

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to In Situ Hybridization, Fluorescence

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Source

Identifiers

PMID: 23825019
DOI: 10.1002/ajmg.a.36028

Genes

TUSC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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