Skip to content
2000
  1. Home
  2. A-Z Publications
  3. Current Aging Science
  4. Volume 18, Issue 1
  5. Article
Volume 18, Issue 1
  • ISSN: 1874-6098
  • E-ISSN: 1874-6128

Abstract

Background

X-linked mutations are highly important in clinical diagnosis, and at least 533 disorders are related to the genes located on the X chromosome.

Case Presentation

A 21-year-old Caucasian woman with a 24-year-old Caucasian man as her fiancé referred Clinical genetic lab for premarital genetic counseling (carrier screening). None of them had any abnormal manifestations. Following genetic counseling, Whole Exome Sequencing (WES) test performed to find the possible pathogenic mutations. Also, after drawing the couple's pedigree, candidate mutations were examined in the woman's parents as well as her uncles. Additionally, investigations were performed through SWISS-MODEL, MolProbity, ProSA, PyMol, and FATCAT tools. The most important mutation diagnosed in the woman (R1362Q in the 35th exon of CACNA1F), was observed in her mother and her two uncles. The mutation was also screened in both her father and her fiancé, but they had no mutations. After medical examinations of carriers, there was no sign of any eye impairment. Other mutations were TCTN2 (c.1613-2A>G), TARS (p.K319E), SPEG (p.E3020K), CPS1 (p.A1180V), MYO3A (p.I736M), NNT (p.R968Q), MED23 (p.K406T). Bioinformatics analyses indicated no alteration in the mutant structure of CACNA1F (Q1362) compared with the normal structure (R1362).

Conclusion

Conclusively, the current study emphasizes the non-pathogenic effect of missense mutation R1362Q in the 35th exon of CACNA1F in association with ocular diseases. This will ensure the reports of this mutation as healthy instead of uncertain in the literature and databanks.

© 2025 Bentham Science Publishers
Loading

Article metrics loading...

/content/journals/cas/10.2174/0118746098307079240507063045
2024-05-21
2025-03-28

  • From This Site

    /content/journals/cas/10.2174/0118746098307079240507063045
    dcterms_title,dcterms_subject,pub_keyword
    -contentType:Contributor -contentType:Concept -contentType:Institution
    10
    5
Loading full text...

Full text loading...

References

  1. Al-KahtaniN. Acceptance of premarital health counseling in Riyadh city, 1417H.J. Family Community Med.200072273410.4103/2230‑8229.9817823008619
     [Google Scholar]
  2. FareedM. AfzalM. Evidence of inbreeding depression on height, weight, and body mass index: A population-based child cohort study.Am. J. Hum. Biol.201426678479510.1002/ajhb.2259925130378
     [Google Scholar]
  3. BittlesA.H. BlackM.L. Consanguinity, human evolution, and complex diseases.Proc. Natl. Acad. Sci. USA2010107Suppl 1Suppl. 11779178610.1073/pnas.090607910619805052
     [Google Scholar]
  4. VogelF. MotulskyA.G. Vogel and motulsky’s human genetics: Problems and approaches.Springer Science & Business Media2013
     [Google Scholar]
  5. FareedM. AfzalM. Genetics of consanguinity and inbreeding in health and disease.Ann. Hum. Biol.20174429910710.1080/03014460.2016.126514827892699
     [Google Scholar]
  6. ZlotogoraJ. What is the birth defect risk associated with consanguineous marriages?Am. J. Med. Genet.20021091707110.1002/ajmg.1031111932996
     [Google Scholar]
  7. MigeonB.R. X-linked diseases: Susceptible females.Genet. Med.20202271156117410.1038/s41436‑020‑0779‑432284538
     [Google Scholar]
  8. BagheriM. FarvardinM. SaadatM. A study of consanguineous marriage as a risk factor for developing comitant strabismus.J. Community Genet.20156217718010.1007/s12687‑015‑0213‑925644872
     [Google Scholar]
  9. ZeitzC. RobsonA.G. AudoI. Congenital stationary night blindness: An analysis and update of genotype–phenotype correlations and pathogenic mechanisms.Prog. Retin. Eye Res.2015455811010.1016/j.preteyeres.2014.09.00125307992
     [Google Scholar]
  10. Bech-HansenN.T. NaylorM.J. MaybaumT.A. PearceW.G. KoopB. FishmanG.A. MetsM. MusarellaM.A. BoycottK.M. Loss-of-function mutations in a calcium-channel α1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.Nat. Genet.199819326426710.1038/9479662400
     [Google Scholar]
  11. StromT.M. NyakaturaG. Apfelstedt-SyllaE. HellebrandH. LorenzB. WeberB.H.F. WutzK. GutwillingerN. RütherK. DrescherB. SauerC. ZrennerE. MeitingerT. RosenthalA. MeindlA. An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.Nat. Genet.199819326026310.1038/9409662399
     [Google Scholar]
  12. StriessnigJ. HodaJ.C. KoschakA. ZaghettoF. MüllnerC. Sinnegger-BraunsM.J. WildC. WatschingerK. TrockenbacherA. PelsterG. L-type Ca2+ channels in Ca2+ channelopathies.Biochem. Biophys. Res. Commun.200432241341134610.1016/j.bbrc.2004.08.03915336981
     [Google Scholar]
  13. StensonP.D. MortM. BallE.V. EvansK. HaydenM. HeywoodS. HussainM. PhillipsA.D. CooperD.N. The human gene mutation database: Towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.Hum. Genet.2017136666567710.1007/s00439‑017‑1779‑628349240
     [Google Scholar]
  14. SallahS.R. SergouniotisP.I. BartonS. RamsdenS. TaylorR.L. SafadiA. KabirM. EllingfordJ.M. LenchN. LovellS.C. BlackG.C.M. Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar.Eur. J. Hum. Genet.20202891274128210.1038/s41431‑020‑0623‑y32313206
     [Google Scholar]
  15. AlmalkiW.H. AlghamdiS. AlzahraniA. ZhangW. Emerging paradigms in treating cerebral infarction with nanotheranostics: Opportunities and clinical challenges.Drug Discov. Today202126382683510.1016/j.drudis.2020.12.01833383212
     [Google Scholar]
/content/journals/cas/10.2174/0118746098307079240507063045
Loading
A Mutation in the CACNA1F Gene Found by Whole Exome Sequencing (WES) and In Silico Analysis in an Iranian Family with Consanguineous Relationships
Curr Aging Sci 18, 80 (2025); https://doi.org/10.2174/0118746098307079240507063045
/content/journals/cas/10.2174/0118746098307079240507063045
/content/journals/cas/10.2174/0118746098307079240507063045
Loading

Data & Media loading...


  • Article Type:     Case Report
Keyword(s): blindness; CACNA1F; homology modeling; mutation; Whole exome sequencing

Most Cited Most Cited RSS feed

This is a required field
Please enter a valid email address
Approval was a Success
Invalid data
An Error Occurred
Approval was partially successful, following selected items could not be processed due to error
Please enter a valid_number test