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CASE REPORT article

Front. Genet.
Sec. Genetics of Common and Rare Diseases
Volume 15 - 2024 | doi: 10.3389/fgene.2024.1391804
This article is part of the Research Topic Early Diagnosis of Kidney Disease in Young Adulthood View all articles

HNF1β, LHX1 and GGNBP2 deletion contributed to kidney and reproductive dysfunction in 17q12 deletion syndrome: evidence from a case report

Provisionally accepted
ChunYu Song ChunYu Song 1Jing Yang Jing Yang 1Sheng Jiang Sheng Jiang 1Guo Li Du Guo Li Du 1,2*
  • 1 Xinjiang Medical University, Ürümqi, Xinjiang Uyghur Region, China
  • 2 First Affiliated Hospital of Xinjiang Medical University, Urumqi, China

The final, formatted version of the article will be published soon.

    17q12 deletion syndrome is a chromosome abnormality in which there is a small missing piece (deletion) of genetic material on the long arm (q) of chromosome 17. Sign and symptoms can vary widely among different patients. Recently, a patient was diagnosed 17q12 deletion syndrome in our hospital and the clinical characteristics presented as absence of the right kidney, compensatory hypertrophy of the left kidney, multiple small cysts in the left kidney, pancreatic atrophy, hypomagnesemia, bowed uterus, multiple follicular cysts in both lobes of the thyroid gland, and Maturity-Onset Diabetes of the Young type 5 (MODY-5). A 1.5-Mb deletion with haploinsufficiency for 20 genes within the 17q12 region was found through copy number variation (CNV) analysis based on metagenomic Next-Generation Sequencing (mNGS) technology. Besides HNF1B absence, The LIM-class homeobox 1 transcription factor (LHX1) and GGNBP2 absences were also involved in regulation of kidney development and reproductive system through bioinformation analysis. The inheriting risk of 17q12 deletion syndrome is about 50%, and it is recommended to provide genetic counseling to all patients who are suspected or diagnosed with the syndrome.

    Keywords: 17q12 deletion syndrome, MODY-5, Lhx1, GGNBP2, HNF1B

    Received: 22 Mar 2024; Accepted: 26 Jul 2024.

    Copyright: © 2024 Song, Yang, Jiang and Du. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Guo Li Du, First Affiliated Hospital of Xinjiang Medical University, Urumqi, China

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