alexa Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes.
Reproductive Medicine

Reproductive Medicine

Reproductive System & Sexual Disorders: Current Research

Author(s): Rosenfeld JA, Drautz JM, Clericuzio CL, Cushing T, Raskin S,

Abstract Share this page

Abstract Although copy number changes of 5q31 have been rarely reported, deletions have been associated with some common characteristics, such as short stature, failure to thrive, developmental delay (DD)/intellectual disability (ID), club feet, dislocated hips, and dysmorphic features. We report on three individuals with deletions and two individuals with duplications at 5q31, ranging from 3.6 Mb to 8.1 Mb and 830 kb to 3.4 Mb in size, respectively. All five copy number changes are apparently de novo and involve several genes that are important in developmental pathways, including PITX1, SMAD5, and WNT8A. The individuals with deletions have characteristic features including DD, short stature, club feet, cleft or high palate, dysmorphic features, and skeletal anomalies. Haploinsufficiency of PITX1, a transcription factor important for limb development, is likely the cause for the club feet, skeletal anomalies, and cleft/high palate, while additional genes, including SMAD5 and WNT8A, may also contribute to additional phenotypic features. Two patients with deletions also presented with corneal anomalies. To identify a causative gene for the corneal anomalies, we sequenced candidate genes in a family with apparent autosomal dominant keratoconus with suggestive linkage to 5q31, but no mutations in candidate genes were found. The duplications are smaller than the deletions, and the patients with duplications have nonspecific features. Although development is likely affected by increased dosage of the genes in the region, the developmental disruption appears less severe than that seen with deletion. Copyright © 2011 Wiley-Liss, Inc. This article was published in Am J Med Genet A and referenced in Reproductive System & Sexual Disorders: Current Research

Relevant Expert PPTs

Relevant Speaker PPTs

Recommended Conferences

  • International Meeting on Women's Health and Breast Cancer
    Oct 12, 2017, Dubai, UAE
  • International Conference on Gynecology and Obstetrics Pathology
    October 23-24, 2017 Orlando, USA
  • 5th International Conference on HIV/AIDS, STDs and STIs
    Nov 13-14, 2017, Las Vegas, Nevada, USA

Relevant Topics

Peer Reviewed Journals
 
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2017-18
 
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

 
© 2008-2017 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version
adwords