17q12 microdeletion syndrome: a report of three cases and literature review

Yongli XU; Jing YANG; Lanqi ZHOU; Jianhua ZHOU

doi:10.12372/jcp.2023.22e0461

Journal of Clinical Pediatrics >

2023 , Vol. 41 >Issue 1: 60 - 65

DOI: https://doi.org/10.12372/jcp.2023.22e0461

General Report

17q12 microdeletion syndrome: a report of three cases and literature review

Yongli XU ,
Jing YANG ,
Lanqi ZHOU ,
Jianhua ZHOU

Expand

Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, Hubei, China

Received date: 2022-04-18

Online published: 2023-02-16

Fold

Abstract

Objective To summarize the clinical characteristics of chromosomal 17q12 microdeletion syndrome in children in order to improve the understanding of the disease. Methods The clinical data of 3 children with chromosomal 17q12 microdeletion syndrome admitted from October 2014 to October 2021 were retrospectively analyzed. Genome-wide chromosomal copy number variation was detected by second-generation sequencing and the relevant literature was reviewed. Results Large deletions (1.89Mb, 1.4Mb and 1.8Mb, respectively) were found on chromosome 17q12 of 3 children (2 boys and 1 girl), and the deletions were all de novo variations. All three patients had renal cysts, hyperuricemia and elevated alkaline phosphatase. Two patients had unilateral renal dysplasia and proteinuria. Two patients had hypomagnesemia, 2 had hypercholesterolemia, 2 had diabetes mellitus, and 1 had elevated liver enzymes. Conclusions Chromosome 17q12 microdeletion syndrome is a rare genetic disorder affecting multiple organ systems, mainly manifesting as renal cysts and dysplasia, as well as metabolic and endocrine abnormalities such as diabetes, hyperuricemia, and hypercholesterolemia.

Key words： 17q12 microdeletion syndrome; hepatocyte nuclear factor 1 beta; renal cyst; genetic disease; child

Cite this article

Yongli XU , Jing YANG , Lanqi ZHOU , Jianhua ZHOU . 17q12 microdeletion syndrome: a report of three cases and literature review[J]. Journal of Clinical Pediatrics, 2023 , 41(1) : 60 -65 . DOI: 10.12372/jcp.2023.22e0461

References

[1]	Mitchel MW, Moreno-De-Luca D, Myers SM, et al. 17q 12 recurrent deletion syndrome[M]//In:Adam MP, Ardinger HH, Pagon RA, et al. GeneReviews. Seattle (WA): University of Washington, Seattle, 1993-2022.
[2]	Rasmussen M, Vestergaard EM, Graakjaer J, et al. 17q12 deletion and duplication syndrome in Denmark-a clinical cohort of 38 patients and review of the literature[J]. Am J Med Genet A, 2016, 170(11): 2934-2942.
[3]	刘丽琴, 廖建湘. 伴癫痫发作的17q12染色体微缺失综合征1例报告[J]. 癫痫与神经电生理学杂志, 2020, 29(2): 126-128.
[4]	张雪莲, 孔晓牧, 金仙, 等. 17q12微缺失导致中国青少年的成年起病型糖尿病5型二例并文献复习[J]. 中华糖尿病杂志, 2021, 13(11): 1084-1089.
[5]	杨玉, 黄慧, 周斌, 等. 新生突变17q12微缺失综合征的临床及遗传学分析[J]. 中华实用儿科临床杂志, 2018, 33(20): 1584-1586.
[6]	余洁, 姚新明, 季文, 等. 合并中枢神经系统受累的17q12微缺失综合征:1个早发糖尿病家系报道[J]. 中华糖尿病杂志, 2022, 14(3): 266-269.
[7]	Andersen BB, Schaffalitzky de Muckadell OB. 17q12 deletion as a possible cause of agenesis of the dorsal pancreas and polycystic kidney disease[J]. Ugeskr Laeger, 2019, 181(47): V08190452.
[8]	Nagano C, Morisada N, Nozu K, et al. Clinical characteristics of HNF1B-related disorders in a Japanese population[J]. Clin Exp Nephrol, 2019, 23(9): 1119-1129.
[9]	Nagamani SC, Erez A, Shen J, et al. Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12[J]. Eur J Hum Genet, 2010, 18(3):278-284.
[10]	Goumy C, Laffargue F, Eymard-Pierre E, et al. Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome[J]. Am J Med Genet A, 2015, 167A(1): 250-253.
[11]	Haeri S, Devers PL, Kaiser-Rogers KA, et al. Deletion of hepatocyte nuclear factor-1-beta in an infant with prune belly syndrome[J]. Am J Perinatol, 2010, 27(7): 559-563.
[12]	Vasileiou G, Hoyer J, Thiel CT, et al. Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?[J]. Prenat Diagn, 2019, 39(12): 1136-1147.
[13]	Bernardini L, Gimelli S, Gervasini C, et al. Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports[J]. Orphanet J Rare Dis, 2009, 4: 25.
[14]	Jones GE, Mousa HA, Rowley H, et al. Should we offer prenatal testing for 17q12 microdeletion syndrome to all cases with prenatally diagnosed echogenic kidneys? Prenatal findings in two families with 17q12 microdeletion syndrome and review of the literature[J]. Prenat Diagn, 2015, 35(13): 1336-1341.
[15]	Mefford HC, Clauin S, Sharp AJ, et al. Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy[J]. Am J Hum Genet, 2007, 81(5): 1057-1069.
[16]	Moreno-De-Luca D, SGENE Consortium, Mulle JG, et al. Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia[J]. Am J Hum Genet, 2010, 87(5): 618-630.
[17]	Palumbo P, Antona V, Palumbo O, et al. Variable phenotype in 17q12 microdeletions: clinical and molecular characterization of a new case[J]. Gene, 2014, 538(2): 373-378.
[18]	Roberts JL, Gandomi SK, Parra M, et al. Clinical report of a 17q12 microdeletion with additionally unreported clinical features[J]. Case Rep Genet, 2014, 2014: 264947.
[19]	Quintero-Rivera F, Woo JS, Bomberg EM, et al. Duodenal atresia in 17q12 microdeletion including HNF1B: a new associated malformation in this syndrome[J]. Am J Med Genet A, 2014, 164A(12): 3076-3082.
[20]	Hinkes B, Hilgers KF, Bolz HJ, et al. A complex microdeletion 17q12 phenotype in a patient with recurrent de novo membranous nephropathy[J]. BMC Nephrol, 2012, 13: 27.
[21]	George AM, Love DR, Hayes I, et al. Recurrent transmission of a 17q12 microdeletion and a variable clinical spectrum[J]. Mol Syndromol, 2012, 2(2): 72-75.
[22]	Loirat C, Bellanné-Chantelot C, Husson I, et al. Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion[J]. Nephrol Dial Transplant, 2010, 25(10): 3430-3433.
[23]	Dixit A, Patel C, Harrison R, et al. 17q12 microdeletion syndrome: three patients illustrating the phenotypic spectrum[J]. Am J Med Genet A, 2012, 158A(9): 2317-2321.
[24]	Roehlen N, Hilger H, Stock F, et al. 17q12 deletion syndrome as a rare cause for diabetes mellitus type MODY5[J]. J Clin Endocrinol Metab, 2018, 103(10):3601-3610.
[25]	Shao A, Chan SC, Igarashi P. Role of transcription factor hepatocyte nuclear factor-1β in polycystic kidney disease[J]. Cell Signal, 2020, 71: 109568.
[26]	Piedrafita A, Balayssac S, Casemayou A, et al. Hepatocyte nuclear factor-1β shapes the energetic homeostasis of kidney tubule cells[J]. FASEB J, 2021, 35(11): e21931.
[27]	Espiritu EB, Crunk AE, Bais A, et al. The Lhx1-Ldb1 complex interacts with Furry to regulate microRNA expression during pronephric kidney development[J]. Sci Rep, 2018, 8(1): 16029.
[28]	Kotalova R, Dusatkova P, Cinek O, et al. Hepatic phenotypes of HNF1B gene mutations: a case of neonatal cholestasis requiring portoenterostomy and literature review[J]. World J Gastroenterol, 2015, 21(8): 2550-2557.
[29]	Clissold RL, Hamilton AJ, Hattersley AT, et al. HNF1B-associated renal and extra-renal disease-an expanding clinical spectrum[J]. Nat Rev Nephrol, 2015, 11(2):102-112.
[30]	Laffargue F, Bourthoumieu S, Llanas B, et al. Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome[J]. Arch Dis Child, 2015, 100(3): 259-264.
[31]	El-Khairi R, Vallier L. The role of hepatocyte nuclear factor 1β in disease and development[J]. Diabetes Obes Metab, 2016, 18 (Suppl 1): 23-32.
[32]	Wu HX, Li L, Zhang H, et al. Accurate diagnosis and heterogeneity analysis of a 17q12 deletion syndrome family with adulthood diabetes onset and complex clinical phenotypes[J]. Endocrine, 2021, 73(1): 37-46.
[33]	Symmank J, G?lling V, Gerstmann K, et al. The transcription factor LHX1 regulates the survival and directed migration of POA-derived cortical interneurons[J]. Cereb Cortex, 2019, 29(4): 1644-1658.
[34]	Zhang L, Fang Y, Cheng X, et al. The potential protective effect of curcumin on amyloid-β-42 induced cytotoxicity in HT-22 cells[J]. Biomed Res Int, 2018, 2018: 8134902.

Options

Outlines

模态框（Modal）标题

Abstract

Cite this article

References