Olgu Sunumu

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

Cilt: 44 Sayı: 1 30 Mart 2022
Cumhuriyet Tıp Dergisi Kapak
Cumhuriyet Tıp Dergisi
PDF İndir
EN

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

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.

Anahtar Kelimeler

Kaynakça

  1. Referans1 Dr.Sinem Atik Yalçıntepe Trakya Üniversitesi Tıp Fakultesi,Tıbbi Genetik Anabilim Dalı. sinem_atik@yahoo.com
  2. Referans2 Dr.Davut Alptekin Çukurova Üniversitesi Tıp Fakultesi,Tıbbi Genetik Anabilim Dalı. alptekin@cu.edu.tr

Ayrıntılar

Birincil Dil

İngilizce

Konular

Sağlık Kurumları Yönetimi

Bölüm

Olgu Sunumu

Yazarlar

Yayımlanma Tarihi

30 Mart 2022

Gönderilme Tarihi

1 Eylül 2021

Kabul Tarihi

28 Mart 2022

Yayımlandığı Sayı

Yıl 2022 Cilt: 44 Sayı: 1

DOI

https://doi.org/10.7197/cmj.989474

IZ

https://izlik.org/JA69RA94NG

Kaynak Göster

RIS / Bibtex
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. https://doi.org/10.7197/cmj.989474
AMA
1.Aylanc H, Sılan F, Çokyaman T, Akcan MB, Özdemir Ö. 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. CMJ. 2022;44(1):125-130. doi:10.7197/cmj.989474
Chicago
Aylanc, Hakan, Fatma Sılan, Turgay Çokyaman, Mehmet Berkay Akcan, ve Öztürk Özdemir. 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): 125-30. https://doi.org/10.7197/cmj.989474.
EndNote
Aylanc H, Sılan F, Çokyaman T, Akcan MB, Özdemir Ö (01 Mart 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.
IEEE
[1]H. Aylanc, F. Sılan, T. Çokyaman, M. B. Akcan, ve Ö. Özdemir, “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”, CMJ, c. 44, sy 1, ss. 125–130, Mar. 2022, doi: 10.7197/cmj.989474.
ISNAD
Aylanc, Hakan - Sılan, Fatma - Çokyaman, Turgay - Akcan, Mehmet Berkay - Özdemir, Öztürk. “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 (01 Mart 2022): 125-130. https://doi.org/10.7197/cmj.989474.
JAMA
1.Aylanc H, Sılan F, Çokyaman T, Akcan MB, Özdemir Ö. 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. CMJ. 2022;44:125–130.
MLA
Aylanc, Hakan, vd. “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, c. 44, sy 1, Mart 2022, ss. 125-30, doi:10.7197/cmj.989474.
Vancouver
1.Hakan Aylanc, Fatma Sılan, Turgay Çokyaman, Mehmet Berkay Akcan, Öztürk Özdemir. 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. CMJ. 01 Mart 2022;44(1):125-30. doi:10.7197/cmj.989474