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

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dc.contributor.authorAylanc, Hakan
dc.contributor.authorSılan, Fatma
dc.contributor.authorÇokyaman, Turgay
dc.contributor.authorAkcan, Mehmet Berkay
dc.contributor.authorÖzdemir, Öztürk
dc.date.accessioned2025-05-29T05:38:30Z
dc.date.available2025-05-29T05:38:30Z
dc.date.issued2022
dc.departmentÇanakkale Onsekiz Mart Üniversitesi
dc.description.abstractThe 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.
dc.identifier.doi10.7197/cmj.989474
dc.identifier.endpage130
dc.identifier.issn1305-0028
dc.identifier.issue1
dc.identifier.startpage125
dc.identifier.urihttps://doi.org/10.7197/cmj.989474
dc.identifier.urihttps://hdl.handle.net/20.500.12428/31845
dc.identifier.volume44
dc.language.isoen
dc.publisherSivas Cumhuriyet University
dc.relation.ispartofCumhuriyet Tıp Dergisi
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_DergiPark_20250529
dc.subjectDistinctive facial appearance
dc.subjectlow birth weight
dc.subjectmental retardation
dc.subjectmicroarray
dc.subjectnewborn
dc.subjectX-linked OPHN1 gene
dc.titleFamilial 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
dc.typeArticle

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