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Yıl 2022, Cilt 44, Sayı 1, 125 - 130, 30.03.2022
https://doi.org/10.7197/cmj.989474

Öz

Kaynakça

  • 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

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

Yıl 2022, Cilt 44, Sayı 1, 125 - 130, 30.03.2022
https://doi.org/10.7197/cmj.989474

Öz

The oligophrenin-1 (OPHN1) gene is localized in the Xq12 region and it encodes the rho-GTPase-activating protein which spans 500 kb in size and consists of 25 exons. Gene plays crucial role in synaptic function and dendritic morphogenesis.
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.

Kaynakça

  • 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

Ayrıntılar

Birincil Dil İngilizce
Konular Sağlık Bilimleri ve Hizmetleri
Bölüm Olgu Sunumları
Yazarlar

Hakan AYLANC
ÇANAKKALE ONSEKİZ MART ÜNİVERSİTESİ, TIP FAKÜLTESİ
0000-0002-8907-3809
Türkiye


Fatma SILAN
ÇANAKKALE ONSEKİZ MART ÜNİVERSİTESİ, TIP FAKÜLTESİ
0000-0001-7191-2240
Türkiye


Turgay ÇOKYAMAN
ÇANAKKALE ONSEKİZ MART ÜNİVERSİTESİ, TIP FAKÜLTESİ
0000-0002-7108-6839
Türkiye


Mehmet Berkay AKCAN
ÇANAKKALE ONSEKİZ MART ÜNİVERSİTESİ, TIP FAKÜLTESİ
0000-0003-0160-0377
Türkiye


Öztürk ÖZDEMİR (Sorumlu Yazar)
ÇANAKKALE ONSEKİZ MART ÜNİVERSİTESİ, TIP FAKÜLTESİ
0000-0003-1057-3235
Türkiye

Yayımlanma Tarihi 30 Mart 2022
Yayınlandığı Sayı Yıl 2022, Cilt 44, Sayı 1

Kaynak Göster

APA Aylanc, H. , Sılan, F. , Çokyaman, T. , Akcan, M. B. & Özdemir, Ö. (2022). 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 . Cumhuriyet Medical Journal , 44 (1) , 125-130 . DOI: 10.7197/cmj.989474