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

Front Genet

State Key Laboratory of Pathogenesis, Prevention and Treatment of High Incidence Diseases in Central Asia, Urumqi, China.

Published: August 2024

AI Article Synopsis

  • - 17q12 deletion syndrome is a chromosomal disorder caused by the loss of a small segment on chromosome 17, leading to a range of symptoms that can differ significantly among patients.
  • - A recent case highlighted various health issues such as missing a kidney, kidney cysts, pancreatic atrophy, and diabetes in a patient, linked to a 1.5-Mb deletion impacting 20 genes in the 17q12 region.
  • - Genetic counseling is advised for individuals suspected of having this syndrome, as there's about a 50% chance of inheritance in affected families.

Article Abstract

17q12 deletion syndrome is a chromosomal abnormality, where 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 with 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. In addition to HNF1B absence, the LIM-class homeobox 1 transcription factor (LHX1) and GGNBP2 absence was also involved in regulation of kidney development and the reproductive system through bioinformatics 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.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11361975PMC
http://dx.doi.org/10.3389/fgene.2024.1391804DOI Listing

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