Zimmermann-Laband syndrome: Clinical and cytogenetic study in two related patients.

Autor:	Shirian S; Department of Pathology, School of Veterinary Medicine, Shahrekord University, Shahrekord, Iran.; Shiraz Molecular Pathology Research Center, Dr Daneshbod Pathology Laboratory, Shiraz, Iran.; Biotechnology Research Inistitute, Shahrekord University, Shahrekord, Iran., Shahabinejad H; Department of Endodontics, Henry M Goldman School of Dental Medicine, Boston University Boston, MA, USA., Saeedzadeh A; Shiraz Molecular Pathology Research Center, Dr Daneshbod Pathology Laboratory, Shiraz, Iran., Daneshbod K; Shiraz Molecular Pathology Research Center, Dr Daneshbod Pathology Laboratory, Shiraz, Iran., Khosropanah H; Department of Periodontology, School of Dentistry, Shiraz University of Medical Science, Shiraz, Iran., Mortazavi M; Craniomaxillofacial Surgery Research Center, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran., Daneshbod Y; Shiraz Molecular Pathology Research Center, Dr Daneshbod Pathology Laboratory, Shiraz, Iran.
Jazyk:	angličtina
Zdroj:	Journal of clinical and experimental dentistry [J Clin Exp Dent] 2019 May 01; Vol. 11 (5), pp. e452-e456. Date of Electronic Publication: 2019 May 01 (Print Publication: 2019).
DOI:	10.4317/jced.55214
Abstrakt:	Background: Zimmermann-Laband Syndrome (ZLS) is an extremely rare autosomal dominant congenital disorder. It is a craniofacial malformation syndrome with predominant intraoral involvement consisting of gingival fibromatosis diffusion in early development. The molecular basis of ZLS is still unknown. Although familial aggregation with different inheritance patterns is detected in ZLS patients, most of the cases are sporadic. Material and Methods: We report on two sibling patients with clinical manifestations of ZLS. Blood samples of both patients were obtained in EDTA-tubes followed by performing cytogenetic study using Cyto2.7M array. Analysis of the copy number was performed using the Chromosome Analysis Suite Software (version 1.0.1, annotation file na 30, Affymetrix) and interpreted with recourse to the UCSC genome browser (http://genome.ucsc.edu/; Human Mar. 2006NCBI Build 36.1/hg18 assembly). Results: The array analysis revealed overlapping regions of chromosomal aberrations in both patients. We detected a 258-kb deletion at 3q13.13, a 89-kb duplication at 1q25.2 as well as two 67-kb duplications at 1p12 and 19q12. These altered regions do not contain any known genes and protein-coding sequences. Conclusions: In conclusion, the findings of this report revealed new chromosomal aberrations, including a deletion at 3q13.13 and duplications at 1q25.2, 1p12 and 19q12, in the two patients with ZLS. Such findings indicate that whole genome screening for genomic rearrangements is fruitful in typical and atypical patients with ZLS. Key words: Zimmermann-Laband syndrome, cytogenetic array, whole genome screening, chromosomal aberration, gingival fibromatosis. Competing Interests: Conflict of interest statement:The authors have declared that no conflict of interest exist.
Databáze:	MEDLINE
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