A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region.

Autor: Vasilyeva TA; Research Centre for Medical Genetics, Moscow, Russian Federation. vasilyeva_debrie@mail.ru., Marakhonov AV; Research Centre for Medical Genetics, Moscow, Russian Federation. marakhonov@generesearch.ru., Minzhenkova ME; Research Centre for Medical Genetics, Moscow, Russian Federation., Markova ZG; Research Centre for Medical Genetics, Moscow, Russian Federation., Petrova NV; Research Centre for Medical Genetics, Moscow, Russian Federation., Sukhanova NV; Central Clinical Hospital of the Russian Academy of Sciences, Moscow, Russian Federation., Koshkin PA; Genomed Ltd., Moscow, Russian Federation., Pyankov DV; Genomed Ltd., Moscow, Russian Federation., Kanivets IV; Genomed Ltd., Moscow, Russian Federation., Korostelev SA; I.M. Sechenov First Moscow State Medical University, Moscow, Russian Federation., Krynskaya IA; Research Centre for Medical Genetics, Moscow, Russian Federation., Shilova NV; Research Centre for Medical Genetics, Moscow, Russian Federation., Kutsev SI; Research Centre for Medical Genetics, Moscow, Russian Federation., Kadyshev VV; Research Centre for Medical Genetics, Moscow, Russian Federation., Zinchenko RA; Research Centre for Medical Genetics, Moscow, Russian Federation.; N.A. Semashko National Research Institute of Public Health, Moscow, Russian Federation.
Jazyk: angličtina
Zdroj: BMC medical genomics [BMC Med Genomics] 2020 Sep 18; Vol. 13 (Suppl 8), pp. 130. Date of Electronic Publication: 2020 Sep 18.
DOI: 10.1186/s12920-020-00790-1
Abstrakt: Background: Because of the significant occurrence of "WAGR-region" deletions among de novo mutations detected in congenital aniridia, DNA diagnosis is critical for all sporadic cases of aniridia due to its help in making an early diagnosis of WAGR syndrome. Standard cytogenetic karyotype study is a necessary step of molecular diagnostics in patients with deletions and in the patients' parents as it reveals complex chromosomal rearrangements and the risk of having another affected child, as well as to provide prenatal and/or preimplantation diagnostics.
Case Presentation: DNA samples were obtained from the proband (a 2-year-old boy) and his two healthy parents. Molecular analysis revealed a 977.065 kb deletion that removed loci of the ELP4, PAX6, and RCN1 genes but did not affect the coding sequence of the WT1 gene. The deletion occurred de novo on the paternal allele. The patient had normal karyotype 46,XY and a de novo pericentric inversion of chromosome 11, inv(11)(p13q14).
Conclusions: We confirmed the diagnosis of congenital aniridia at the molecular level. For the patient, the risk of developing Wilms' tumor is similar to that in the general population. The recurrence risk for sibs in the family is low, but considering the possibility of gonadal mosaicism, it is higher than in the general population.
Databáze: MEDLINE
Externí odkaz:
Nepřihlášeným uživatelům se plný text nezobrazuje