Evidence for increased SOX3 dosage as a risk factor for X‐linked hypopituitarism and neural tube defects. Issue 8 (15th April 2014)

• Record Type: Journal Article
• Authors: Bauters, Marijke; Frints, Suzanna G.; Van Esch, Hilde; Spruijt, Liesbeth; Baldewijns, Marcella M.; Die‐Smulders, Christine E. M. de; Fryns, Jean‐Pierre; Marynen, Peter; Froyen, Guy
• Is Part Of: American journal of medical genetics. Volume 164:Issue 8(2014.)
• Page Start: 1947
• Page End: 1952
• Publication Date: 2014-04-15
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36580
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga36580-sec-0001" sec-type="section"> <p>Genomic duplications of varying lengths at Xq26–q27 involving <italic>SOX3</italic> have been described in families with X‐linked hypopituitarism. Using array‐CGH we detected a 1.1 Mb microduplication at Xq27 in a large family with three males suffering from X‐linked hypopituitarism. The duplication was mapped from 138.7 to 139.8 Mb, harboring only two annotated genes, <italic>SOX3</italic> and <italic>ATP11C</italic>, and was shown to be a direct tandem copy number gain. Unexpectedly, the microduplication did not fully segregate with the disease in this family suggesting that <italic>SOX3</italic> duplications have variable penetrance for X‐linked hypopituitarism. In the same family, a female fetus presenting with a neural tube defect was also shown to carry the <italic>SOX3</italic> copy number gain. Since we also demonstrated increased <italic>SOX3</italic> mRNA levels in amnion cells derived from an unrelated t(X;22)(q27;q11) female fetus with spina bifida, we propose that increased levels of <italic>SOX3</italic> could be a risk factor for neural tube defects. © 2014 Wiley Periodicals, Inc.</p> </sec> </abstract>