335.4kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic features

Viola Alesi, Marta Bertoli, Giuseppe Barrano, Barbara Torres, Silvia Pusceddu, Myriam Pastorino, Chiara Perria, Anna Maria Nardone, Antonio Novelli, Gigliola Serra

Research output: Contribution to journalArticlepeer-review

Abstract

About 10% of causative mutations for mental retardation in male patients involve X chromosome (X-linked mental retardation, XLMR).We describe a case of a 3-year-old boy presenting with developmental delay, autistic features and growth and speech delay. Array-CGH analysis detected a microduplication on the X chromosome (Xp11.2p11.3), spanning 335.4. kb and including 3 known genes (ZNF81, ZNF182 and SPACA5).Genome-wide association studies show that approximately 30% of mutations causing XLMR are located in Xp11.2p11.3, where few pathogenic genes have been identified to date (such as ZNF41, PQB1 and ZNF81). ZNF81 codifies a zinc finger protein and mutations (non-sense mutations, deletions and structural rearrangements) involving this gene have already been described in association with mental retardation. Larger duplications in the same region have also been observed in association with mental retardation, and, in one case, the over-expression of ZNF81 has also been verified by mRNA quantification. No duplications of the single gene have been identified. To our knowledge, the microduplication found in our patient is the smallest ever described in Xp11.2p11.3. This suggests that the over-expression of ZNF81 could have pathological effects.

Original languageEnglish
Pages (from-to)384-387
Number of pages4
JournalGene
Volume505
Issue number2
DOIs
Publication statusPublished - Sep 1 2012

Keywords

  • Autism spectrum disorder
  • Intellectual disability
  • X-linked mental retardation
  • ZNF81 duplication

ASJC Scopus subject areas

  • Genetics

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