17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature - PubMed

Affiliations

• PMID: 27409573
• DOI: 10.1002/ajmg.a.37848

Review

17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature

Maria Rasmussen et al. Am J Med Genet A. 2016 Nov.

Abstract

17q12 deletions and duplications are two distinct, recurrent chromosomal aberrations usually diagnosed by chromosomal microarray analysis (CMA). The aberrations encompass the genes, HNF1B, LHX1, and ACACA, among others. We here describe a large national cohort of 12 phenotyped patients with 17q12 deletions and 26 phenotyped patients with 17q12 duplications. The total cohort includes 19 index patients and 19 family members. We also reviewed the literature in order to further improve the basis for the counseling. We emphasize that renal disease, learning disability, behavioral abnormalities, epilepsy, autism, schizophrenia, structural brain abnormalities, facial dysmorphism, and joint laxity are features seen in both the 17q12 deletion syndrome and the reciprocal 17q12 duplication syndrome; and we extend the list of features seen in both patient categories to include strabismus, esophageal defects, and duodenal atresia. Delayed language development, learning disability, kidney involvement, and eye dysmorphism and strabismus were the most consistently shared features among patients with 17q12 deletion. Patients with 17q12 duplications were characterized by an extremely wide phenotypic spectrum, including a variable degree of learning disabilities, delayed language development, delayed motor milestones, and a broad range of psychiatric and neurological features. This patient group also included adults achieving an academic degree. Assessing index patients and non-index patients separately, our observations illustrate that an overall milder disease burden is seen, in particular in patients with 17q12 duplications who are ascertained on the duplication rather than the phenotype. This evidence may be useful in prenatal counseling. © 2016 Wiley Periodicals, Inc.

Keywords: 17q12 deletion; 17q12 duplication; array cgh; chromosomal microarray; genetic counselling; kidney anomalies; learning disability; prenatal diagnostics; snp array.

Similar articles

• Prenatal diagnosis of 17q12 duplication and deletion syndrome in two fetuses with congenital anomalies.

  Li R, Fu F, Zhang YL, Li DZ, Liao C. Li R, et al. Taiwan J Obstet Gynecol. 2014 Dec;53(4):579-82. doi: 10.1016/j.tjog.2014.05.004. Taiwan J Obstet Gynecol. 2014. PMID: 25510704

• Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?

  Vasileiou G, Hoyer J, Thiel CT, Schaefer J, Zapke M, Krumbiegel M, Kraus C, Zweier M, Uebe S, Ekici AB, Schneider M, Wiesener M, Rauch A, Faschingbauer F, Reis A, Zweier C, Popp B. Vasileiou G, et al. Prenat Diagn. 2019 Nov;39(12):1136-1147. doi: 10.1002/pd.5556. Epub 2019 Oct 25. Prenat Diagn. 2019. PMID: 31498910

• 17q12 microduplications: a challenge for clinicians.

  Bertini V, Orsini A, Bonuccelli A, Cambi F, Del Pistoia M, Vannozzi I, Toschi B, Saggese G, Simi P, Valetto A. Bertini V, et al. Am J Med Genet A. 2015 Mar;167A(3):674-6. doi: 10.1002/ajmg.a.36905. Am J Med Genet A. 2015. PMID: 25691423

• Chromosomal-array analysis reveals partial 11q duplication and partial 12p deletion in a mildly affected case.

  Tuğ E, Yirmibeş Karaoğuz M, Kayhan G, Ergün MA, Perçin FE. Tuğ E, et al. Am J Med Genet A. 2014 Jul;164A(7):1770-6. doi: 10.1002/ajmg.a.36495. Epub 2014 Mar 26. Am J Med Genet A. 2014. PMID: 24677787 Review.

• MICRODUPLICATION OF 17p[DUP(17)(12p11.2)]: REPORT OF A NEONATE WITH A SPINA BIFIDA AND CARDIAC ANOMALIES AND A LITERATURE REVIEW.

  Puvabanditsin S, Gueye-Ndiaye S, Puthenpura V, Gengel N, Tam V, Mehta R. Puvabanditsin S, et al. Genet Couns. 2016;27(4):503-507. Genet Couns. 2016. PMID: 30226970 Review.

Cited by

• A rare combination of MODY5 and duodenal atresia in a patient: a case report.

  Du T, Zeng N, Wen X, Zhu P, Li W. Du T, et al. BMC Med Genet. 2020 Feb 6;21(1):24. doi: 10.1186/s12881-020-0954-0. BMC Med Genet. 2020. PMID: 32028929 Free PMC article.

• Complex neuropsychiatric presentation of 17q12 duplication syndrome: A case report.

  Das S, Samarasinghe L, Deva S, Fernandez Co EM, Poudel S, Dave T, Prasad S, Sarangi A. Das S, et al. SAGE Open Med Case Rep. 2024 Feb 19;12:2050313X241233184. doi: 10.1177/2050313X241233184. eCollection 2024. SAGE Open Med Case Rep. 2024. PMID: 38379631 Free PMC article.

• Review of neurodevelopmental disorders in patients with HNF1B gene variations.

  Nittel CM, Dobelke F, König J, Konrad M, Becker K, Kamp-Becker I, Weber S; NEOCYST consortium. Nittel CM, et al. Front Pediatr. 2023 Mar 9;11:1149875. doi: 10.3389/fped.2023.1149875. eCollection 2023. Front Pediatr. 2023. PMID: 36969268 Free PMC article. Review.

• 17q12 deletion syndrome mouse model shows defects in craniofacial, brain and kidney development, and glucose homeostasis.

  Warren EB, Briano JA, Ellegood J, DeYoung T, Lerch JP, Morrow EM. Warren EB, et al. Dis Model Mech. 2022 Dec 1;15(12):dmm049752. doi: 10.1242/dmm.049752. Epub 2022 Dec 13. Dis Model Mech. 2022. PMID: 36373506 Free PMC article.

• Pregnancy outcome with maternal HNF1B gene mutations and 17q12 deletions.

  Morton A, Li L, Wilson C. Morton A, et al. Obstet Med. 2023 Jun;16(2):78-82. doi: 10.1177/1753495X221109734. Epub 2022 Jun 27. Obstet Med. 2023. PMID: 37441663 Free PMC article. Review.

Publication types

MeSH terms

LinkOut - more resources

• Full Text Sources

  • Ovid Technologies, Inc.
  • Wiley

• Other Literature Sources

  • scite Smart Citations

• Medical

  • MedlinePlus Health Information

• Miscellaneous

  • NCI CPTAC Assay Portal