ArticleEndocrine2021
Accurate diagnosis and heterogeneity analysis of a 17q12 deletion syndrome family with adulthood diabetes onset and complex clinical phenotypes.
Article in Endocrine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 14 citations in OpenAlex.
- Review
- A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization.Frontiers in endocrinology · 2026Article
- 17q12 Recurrent Deletion Syndrome in Childhood.Genes · 2025Review
- A Case of 17q12 Microdeletion Syndrome in a MODY5 Type Diabetes with HNF-1β Gene Mutation Accompanied.The application of clinical genetics · 2024Article
- Japanese 17q12 Deletion Syndrome with Complex Clinical Manifestations.Internal medicine (Tokyo, Japan) · 2024Article
- Prenatal diagnosis and family analysis of 17q12 microdeletion syndrome with fetal renal abnormalities.Frontiers in genetics · 2024Article
- Identification of 17q12 microdeletion syndrome in a Latin American patient with maturity-onset diabetes of the young subtype 5: a case report.Journal of medical case reports · 2023Article
- Review of neurodevelopmental disorders in patients with HNF1B gene variations.Frontiers in pediatrics · 2023Review
- Unsupervised Anomaly Detection to Characterize Heterogeneity in Type 2 Diabetes.AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science · 2023Article
- Unusual manifestations of young woman with MODY5 based on 17q12 recurrent deletion syndrome.BMC endocrine disorders · 2022Article
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9 authors at 3 institutions in 1 country.
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Abstract
purpose17q12 Deletion Syndrome is heterogeneous and the reasons remain unclear. We clarified the clinical characteristics of adulthood diabetes onset 17q12 deletion syndrome and investigated the unclear phenotype-genotype correlation.
methodsWe collected the clinical history and laboratory results of a family with autosomal dominant inheritance diabetes and renopathy. Sanger sequencing of HNF1B and a panel of monogenic diabetic genes were performed to identify the monogenetic diabetes. Semiquantitative PCR and Chromosome 100 K sequence analysis were performed to analyze the copy numbers variation of diabetes related genes. Allelic specific quantitative PCR were used for TBC1D3 and paralogues diagnosis. The reported cases were reviewed and assessed to compare with patients in this study.
resultsDifferential variants in genomic DNA and clinical presentations among family members were explored to determine the probable phenotype-genotypes correlation. The four patients were diagnosed with 17q12 deletion syndrome with 1.47-1.76 Mb heterogeneous deletion, which led to the haploinsufficiency of HNF1B, ACACA, LHX1, PIGW, miRNA2909 and other genes. The patients had different amount of genes deletion in TBC1D3 and paralogues, which might associate with the heterogeneous clinical phenotypes.
conclusionsWe first reported an adulthood diabetes onset 17q12 deletion syndrome family with the largest number of patients. The heterogeneous clinical phenotypes might be related to the haploinsufficiency of TBC1D3 and its paralogues.
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