Familial intragenic X-linked OPHN1 gene deletion in a newborn male infant with low birth weight and distinctive facial appearance that diagnosed by advanced microarray-CGH method
Abstract
Here we report a 391 kb deletion in OPHN1 gene in a mother and her newborn male child with recognizable pattern of clinical and neuroradiological hallmarks. Mother has short stature, and her son has distinctive facial appearance, bilateral choroid plexus cysts and low birth weight (1600 g).
After clinical evaluation, the current large intragenic gene deletion was identified by microarray-CGH and confirmed by MLPA techniques. The P106 MRX probemix kit (MRC Holland C1- 0416, Amsterdam) and Coffalyser software were used for MLPA and Agilent sure print G3 HUMAN CGH 60k Microarray platform and Agilent cytogenomics 4.0.2.21 software (Singapore) were used for advance chromosomal genotyping for mother and his son in the presented results.
Presented results showed that mother with X chromosome deletion has a great risk to have a son with mental retardation due to deleted X chromosome transmission in 50% possibility. If the son has clinical findings, the genotype should be screened by using the advanced genetic methodology. Results also showed that once these cases are first diagnosed correctly, they may be candidate to IVF for preimplantation genetic diagnosis by giving appropriate genetic counseling. It is also comment that pregnant women who have the history of having X-linked mental retarded child or a mentally retarded brother need to be tested genetically for prenatal diagnosis.
Keywords
References
- Referans1 Dr.Sinem Atik Yalçıntepe Trakya Üniversitesi Tıp Fakultesi,Tıbbi Genetik Anabilim Dalı. sinem_atik@yahoo.com
- Referans2 Dr.Davut Alptekin Çukurova Üniversitesi Tıp Fakultesi,Tıbbi Genetik Anabilim Dalı. alptekin@cu.edu.tr
Details
Primary Language
English
Subjects
Health Care Administration
Journal Section
Case Report
Authors
Hakan Aylanc
0000-0002-8907-3809
Türkiye
Fatma Sılan
0000-0001-7191-2240
Türkiye
Turgay Çokyaman
0000-0002-7108-6839
Türkiye
Öztürk Özdemir
*
0000-0003-1057-3235
Türkiye
Publication Date
March 30, 2022
Submission Date
September 1, 2021
Acceptance Date
March 28, 2022
Published in Issue
Year 2022 Volume: 44 Number: 1