A maternally inherited Interstitial Xq21 deletion associated with deafness and mental retardation syndrome in a male patient
https://doi.org/10.25557/2073-7998.2021.10.50-52
Abstract
Deletions on the X chromosome can lead to serious birth defects. Deletions in Xq21 cause various congenital defects in males including choroideremia, deafness and mental retardation, depending on their size and gene content. Only a limited number of patients with Xq21 deletions has been reported. It has been shown that deletions of the adjacent Xq21 genes, including the POU3F4, CHM and ZNF711 genes, can lead to deafness and mental retardation syndrome and choroideremia. Despite the severe symptoms exhibited by male probands, most female carriers are asymptomatic or exhibit only a mild phenotype. The article presents the clinical and molecular-cytogenetic characteristics of a case of deletion of the Xq21.1-q21.31 region of chromosome X, revealed during chromosomal microarray analysis in a patient with delayed psycho-speech development, facial dysmorphisms and hearing loss. The same deletion was found in an apparently healthy mother. Our study confirms the causative effect between the Xq21 deletion in males and choroideremia, deafness and mental retardation.
About the Authors
Zh. G. Markova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
M. E. Minzhenkova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
N. A. Demina
Research Centre for Medical Genetics
Russian Federation
Russian Federation
N. V. Shilova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
References
1. Ayazi S. Choroideremia, obesity, and congenital deafness. Am J Ophthalmol. 1981; 92(1): 63-69. doi: 10.1016/S0002-9394(14)75909-4.
2. Giordano M., Gertosio C., Pagani S. et al. A 5.8 Mb interstitial deletion on chromosome Xq21.1 in a boy with intellectual disability, cleft palate, hearing impairment and combined growth hormone deficiency. BMC Med Genet. 2015; 16: 74. https://doi.org/10.1186/s12881-015-0220-z
3. Liang S., Jiang N., Li S., Jiang X., Yu D. A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient. Mol Cytogenet. 2017; 10: 23. doi: 10.1186/s13039-017-0324-6.
4. Tarpey P.S., Smith R., Pleasance E., et al. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet. 2009; 41(5): 535-543. doi:10.1038/ng.367
5. van der Werf I.M., Van Dijck A., Reyniers E., Helsmoortel C., Kumar A.A., Kalscheuer V.M., de Brouwer A.P., Kleefstra T., van Bokhoven H., Mortier G., Janssens S., Vandeweyer G., Kooy R.F. Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability. Gene 2017; 605: 92-98. doi: 10.1016/j.gene.2016.12.013.
6. Iossa S., Costa V., Corvino V. et al. Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss. Mol Cytogenet. 2015; 8: 18. doi: 10.1186/s13039-015-0120-0
7. Song M.H., Lee H.K., Choi J.Y., Kim S., Bok J., Kim U.K. Clinical evaluation of DFN3 patients with deletions in the POU3F4 locus and detection of carrier female using MLPA. Clin Genet. 2010; 78(6): 524-532. doi: 10.1111/j.1399-0004.2010.01426.x.
8. Fioretti T., Di Iorio V., Lombardo B., et al. Molecular Characterization of Choroideremia-Associated Deletions Reveals an Unexpected Regulation of CHM Gene Transcription. Genes (Basel) 2021; 12(8): 1111. doi: 10.3390/genes12081111
9. Lyon M.F. X-chromosome inactivation and human genetic disease. Acta Paediatr Suppl. 2002; 91(439): 107-12. doi: 10.1111/j.1651-2227.2002.tb03120.x.
Review
For citations:
Markova Zh.G., Minzhenkova M.E., Demina N.A., Shilova N.V. A maternally inherited Interstitial Xq21 deletion associated with deafness and mental retardation syndrome in a male patient. Medical Genetics. 2021;20(10):50-52. (In Russ.) https://doi.org/10.25557/2073-7998.2021.10.50-52
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