Open Access

Microduplication of 7q36.3 encompassing the SHH long‑range regulator (ZRS) in a patient with triphalangeal thumb‑polysyndactyly syndrome and congenital heart disease

  • Authors:
    • Zhenghua Liu
    • Ni Yin
    • Lianghui Gong
    • Zhiping Tan
    • Bangliang Yin
    • Yifeng Yang
    • Cheng Luo
  • View Affiliations

  • Published online on: December 29, 2016     https://doi.org/10.3892/mmr.2016.6092
  • Pages: 793-797
  • Copyright: © Liu et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Triphalangeal thumb‑polysyndactyly syndrome (TPT‑PS) is an autosomal dominant disorder with complete penetrance and a variable expression consisting of opposable triphalangeal thumbs, duplication of the distal thumb phalanx, pre‑axial polydactyly and duplication of the big toes (hallux). The causative gene of TPT‑PS has been mapped to 7q36.3. Sonic hedgehog (SHH) expressed in the zone of polarizing activity (ZPA) has an important role in defining the anterior‑posterior axis and numbers of digits in limb bud development. Point mutation or duplication in the ZPA regulatory sequence (ZRS), a cis‑regulator of SHH, will lead to TPT‑PS. The present study describes a 1‑year‑old female congenital heart disease (CHD) patient with TPT‑PS phenotype. In this Han Chinese family with TPT‑PS, high resolution single nucleotide polymorphism array technology identified a novel 0.29 Mb duplication comprising ZRS at 7q36.3 where LMBR1 is located. Additionally, a novel deletion of 22q11.21 was detected in the proband with Tetralogy of Fallot. However, the parents and other relatives of the patient did not harbor this genomic lesion nor CHD. The findings supported the hypothesis that an increased copy number variation of ZRS is the genetic mechanism underlying the phenotype of TPT‑PS, and corroborated that 22q11.21 deletion is a genetic cause of CHD.
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February-2017
Volume 15 Issue 2

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Spandidos Publications style
Liu Z, Yin N, Gong L, Tan Z, Yin B, Yang Y and Luo C: Microduplication of 7q36.3 encompassing the SHH long‑range regulator (ZRS) in a patient with triphalangeal thumb‑polysyndactyly syndrome and congenital heart disease. Mol Med Rep 15: 793-797, 2017
APA
Liu, Z., Yin, N., Gong, L., Tan, Z., Yin, B., Yang, Y., & Luo, C. (2017). Microduplication of 7q36.3 encompassing the SHH long‑range regulator (ZRS) in a patient with triphalangeal thumb‑polysyndactyly syndrome and congenital heart disease. Molecular Medicine Reports, 15, 793-797. https://doi.org/10.3892/mmr.2016.6092
MLA
Liu, Z., Yin, N., Gong, L., Tan, Z., Yin, B., Yang, Y., Luo, C."Microduplication of 7q36.3 encompassing the SHH long‑range regulator (ZRS) in a patient with triphalangeal thumb‑polysyndactyly syndrome and congenital heart disease". Molecular Medicine Reports 15.2 (2017): 793-797.
Chicago
Liu, Z., Yin, N., Gong, L., Tan, Z., Yin, B., Yang, Y., Luo, C."Microduplication of 7q36.3 encompassing the SHH long‑range regulator (ZRS) in a patient with triphalangeal thumb‑polysyndactyly syndrome and congenital heart disease". Molecular Medicine Reports 15, no. 2 (2017): 793-797. https://doi.org/10.3892/mmr.2016.6092