Deletion 12p12 involving SOX5 in two children with developmental delay and dysmorphic features

Ryan W Y Lee, Joann N Bodurtha, Julie Cohen, Ali Fatemi, Denise Batista

Research output: Contribution to journalArticle

Abstract

The SOX5 gene encodes a transcription factor involved in the regulation of nervous system development and chondrogenesis. This article reports on two cases of 12p12.1 deletion involving SOX5 presenting with global developmental delay, intellectual disability, expressive language delay, mild motor impairment, distinct features, and multiorgan involvement. The first case involves a 32-month-old boy with de novo 53-kilobase interstitial deletion at 12p12.1, representing the smallest deletion reported, and presents with severe symptomatology. The second case is a 31-month-old girl with 3.2-megabase deletion at 12p12.2 p12.1 with severe neurodevelopmental disability and minimal organ involvement. These patients bear many of the characteristics previously reported in patients with SOX5 mutations. We propose a neurodevelopmental approach to a novel syndrome with dose- and location-sensitive SOX5 gene expression.

Original languageEnglish (US)
Pages (from-to)317-320
Number of pages4
JournalPediatric Neurology
Volume48
Issue number4
DOIs
StatePublished - 2013

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Language Development Disorders
Chondrogenesis
Intellectual Disability
Nervous System
Transcription Factors
Gene Expression
Mutation
Genes

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology
  • Medicine(all)

Cite this

Deletion 12p12 involving SOX5 in two children with developmental delay and dysmorphic features. / Lee, Ryan W Y; Bodurtha, Joann N; Cohen, Julie; Fatemi, Ali; Batista, Denise.

In: Pediatric Neurology, Vol. 48, No. 4, 2013, p. 317-320.

Research output: Contribution to journalArticle

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