Homozygous deletion in TUSC3 causing syndromic intellectual disability

A new patient

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

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

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 203kb, 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 small Sicilian village and were heterozygous carriers of the microdeletion. The propositus had a few dysmorphic features and a moderate cognitive impairment. Verbal communication was impaired, with an inappropriate phonetic inventory, important phono-articolatory distortions, and bucco-phonatory dyspraxia. Comprehension was possible for simple sentences. Behavior was characterized by motor instability, high tendency to irritability and distraibility, anxiety traits, and an oppositional-defiant disorder. His parents were of normal intelligence. TUSC3 is thought to encode a subunit of the endoplasmic reticulum-bound oligosaccharyltranferase complex that catalyzes a pivotal step in the protein N-glycosylation process. TUSC3 has been recently reported as a member of the plasma membrane Mg2+ transport system, with a possible involvement in learning abilities, working memory and short- and long-term memory. This is the third family in which a deletion has been described. Although the pathogenic mechanism has not been clarified yet, our report argues for a more prominent role of TUSC3 in the etiology of intellectual disability and that deletions encompassing this gene could be more common than expected.

Original languageEnglish
Pages (from-to)2084-2087
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume161
Issue number8
DOIs
Publication statusPublished - Aug 2013

Fingerprint

Intellectual Disability
Parents
Attention Deficit and Disruptive Behavior Disorders
Apraxias
Phonetics
Aptitude
Long-Term Memory
Gene Deletion
Oligonucleotide Array Sequence Analysis
Intelligence
Glycosylation
Short-Term Memory
Point Mutation
Endoplasmic Reticulum
Genes
Single Nucleotide Polymorphism
Exons
Anxiety
Communication
Cell Membrane

Keywords

  • Autosomic recessive mental retardation (ARMR)
  • Homozygous 8p22 deletion
  • Intellectual disability
  • SNP-array
  • TUSC3 gene

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Homozygous deletion in TUSC3 causing syndromic intellectual disability : A new patient. / Loddo, Sara; Parisi, Valentina; Doccini, Viola; Filippi, Tiziana; Bernardini, Laura; Brovedani, Paola; Ricci, Federica; Novelli, Antonio; Battaglia, Agatino.

In: American Journal of Medical Genetics, Part A, Vol. 161, No. 8, 08.2013, p. 2084-2087.

Research output: Contribution to journalArticle

Loddo, Sara ; Parisi, Valentina ; Doccini, Viola ; Filippi, Tiziana ; Bernardini, Laura ; Brovedani, Paola ; Ricci, Federica ; Novelli, Antonio ; Battaglia, Agatino. / Homozygous deletion in TUSC3 causing syndromic intellectual disability : A new patient. In: American Journal of Medical Genetics, Part A. 2013 ; Vol. 161, No. 8. pp. 2084-2087.
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