De novo microduplication of the FMR1 gene in a patient with developmental delay, epilepsy and hyperactivity

Jaime Vengoechea, Aditi S. Parikh, Shulin Zhang, Flora Tassone

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

Loss-of-function due to expansion of a CGG repeat located in the 5'UTR of the FMR1 gene is the most frequent cause of fragile X syndrome. Less than 1% of individuals with fragile X syndrome have been reported to have a partial or full deletion or point mutation of the FMR1 gene. However, whether a copy number gain of the FMR1 gene could result in certain clinical phenotypes has not been fully investigated. Here, we report the case of a child who presented with developmental delay starting at 9 months of age, fine motor and speech delay, progressive seizures since 18 months of age and hyperactivity. Molecular workup identified a de novo microduplication in the Xq27.3 region, including the FMR1 gene and the ASFMR1 gene. The expression level of the FMR1 gene in peripheral blood did not differ from that of the controls. In addition, an inherited 363-kb duplication on the chromosome 1q44 region and an inherited deletion of 168 kb on the chromosome 4p15.31 region were detected. It is not clear whether these inherited copy number variations (CNVs) also have a modifying role in the clinical phenotype of this patient.

Original languageEnglish (US)
Pages (from-to)1197-1200
Number of pages4
JournalEuropean Journal of Human Genetics
Volume20
Issue number11
DOIs
StatePublished - Nov 2012

Fingerprint

Epilepsy
Genes
Fragile X Syndrome
Chromosome Duplication
Language Development Disorders
Phenotype
Sequence Deletion
5' Untranslated Regions
Point Mutation
Seizures
Chromosomes

Keywords

  • copy number variation
  • developmental delay
  • epilepsy
  • fragile X
  • hyperactivity
  • microduplication

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

De novo microduplication of the FMR1 gene in a patient with developmental delay, epilepsy and hyperactivity. / Vengoechea, Jaime; Parikh, Aditi S.; Zhang, Shulin; Tassone, Flora.

In: European Journal of Human Genetics, Vol. 20, No. 11, 11.2012, p. 1197-1200.

Research output: Contribution to journalArticle

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