Exome sequencing expands the mechanism of SOX5‐associated intellectual disability: A case presentation with review of sox‐related disorders. (25th June 2015)

• Record Type: Journal Article
• Authors: Nesbitt, Addie; Bhoj, Elizabeth J.; McDonald Gibson, Kristin; Yu, Zhenming; Denenberg, Elizabeth; Sarmady, Mahdi; Tischler, Tanya; Cao, Kajia; Dubbs, Holly; Zackai, Elaine H.; Santani, Avni
• Is Part Of: American journal of medical genetics. Volume 167:Number 11(2015:Nov.)
• Page Start: 2548
• Page End: 2554
• Publication Date: 2015-06-25
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.37221
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga37221-sec-0001" sec-type="section"> <p>The <italic>SOX5</italic> haploinsufficiency syndrome is characterized by global developmental delay, intellectual disability, language and motor impairment, and distinct facial features. The smallest deletion encompassed only one gene, <italic>SOX5</italic> (OMIM 604975), indicating that haploinsufficiency of <italic>SOX5</italic> contributes to neuro developmental delay. Although multiple deletions of the <italic>SOX5</italic> gene have been reported in patients, none are strictly intragenic point mutations. Here, we report the identification of a de novo loss of function variant in <italic>SOX5</italic> identified through whole exome sequencing. The proband presented with moderate developmental delay, bilateral optic atrophy, mildly dysmorphic features, and scoliosis, which correlates with the previously‐described <italic>SOX5</italic>‐associated phenotype. These results broaden the diagnostic spectrum of <italic>SOX5</italic>‐related intellectual disability. Furthermore it highlights the utility of exome sequencing in establishing an etiological basis in clinically and genetically heterogeneous conditions such as intellectual disability. © 2015 Wiley Periodicals, Inc.</p> </sec> </abstract>