Özlem Giray Bozkaya

Lack of association of childhood partial epilepsy with brain derived neurotrophic factor gene.

Brain-derived factor (BDNF) is a member of neurotrophin family and is localized and upregulated in areas implicated in epileptogenesis. Several lines of evidence make the BDNF gene a plausible candidate gene for predisposition to epilepsy. In this study, we tested that BDNF might be involved in the etiology of childhood PE. To assess whether BDNF gene C270T polimorphism could be implicated in vulnerability to PE, we conducted a case-control association analysis (112 partial epileptic and 100 controls) in Turkish children. Epileptic children were divided into two groups: 1—idiopathic (n = 85) and 2—symptomathic epilepsy (n = 27). There was no significant difference in genotypic distribution and allelic frequencies of the BDNF gene C270T polimorphism between the PE and control groups. However, the BDNF gene TT genotype was more frequently seen in the epileptic children (15 versus 11 patients, resp.). Interestingly, in the epilepsy group, both two children with TT genotype have posttraumatic epilepsy. The data indicate a possible association with the 270T genotype of the BDNF gene with a posttraumatic epilepsy. To draw any conclusion, further studies using larger sample sizes should be carried out in various ethnic populations in childhood epilepsies.

Assessment of sleep problems in children with familial Mediterranean fever

This study aimed to investigate sleep patterns, sleep disturbances and possible factors that are associated with sleep disturbances among children with familial Mediterranean fever (FMF).

Two Cases with Ring Chromosome 13 at either End of the Phenotypic Spectrum

Ring chromosome 13 is a rare genetic condition with an incidence of 1/58,000 in live births. Major clinical features of patients with ring chromosome 13 include growth and developmental retardation, microcephaly, facial dysmorphism, ambiguous genitalia, anal atresia, eye malformations, retinoblastoma, and hand, foot, and toe abnormalities. The severity of the phenotype depends on the amount of genetic material lost during ring chromosome formation. Here, we report 2 cases with ring chromosome 13 at either end of the phenotypic spectrum.

A novel mutation in the mitochondrial DNA cytochrome b gene (MTCYB) in a patient with Prader Willi syndrome.

In recent years, it has been suggested that defects in energy metabolism may accompany Prader Willi syndrome. Mutations in the mitochondrial cytochrome b gene have been commonly associated isolated mitochondrial myopathy and exercise intolerance, rarely with multisystem disorders. The authors describe a novel mutation (mt. 15209T>C) in mitochondrial cytochrome b gene in a 2-year-old girl with Prader-Willi syndrome with a clinical history of lactic acidosis attacks, renal sodium loss, hepatopathy, progressive cerebral atrophy, and sudden death. The authors suggest that atypical clinical findings in patients with Prader-Willi syndrome should direct the physician to search for a mitochondrial disease.

Glutathione S-Transferase Gene Polymorphisms in Children with Down Syndrome and Their Mothers

Abstract To elucidate the genetic factors causing clinical differences in the children with Down syndrome and evaluate possible maternal risk factors, the researchers have investigated GSTM1, GSTT1, GSTP1 gene polymorphisms. Four groups were defined: group I (n = 52), children with Down syndrome; group II (n = 70), healthy children; group III (n = 52), mothers of the children with Down syndrome; and group IV (n = 69), mothers of the healthy children. Genomic DNA was extracted from the white blood cells and GenID ® GmbH kit used for GST M1, T1 and P1 gene amplification to determine polymorphisms. The researchers did not detect any significant difference in the allele frequencies between groups I and II, nor groups III and IV. The data indicated no relationship between detected GST polymorphisms, neither with Down syndrome nor with the risk of having an infant with Down syndrome.

Three novel mutations of CHD7 gene in two turkish patients with charge syndrome; A double point mutation and an insertion.

Abstract The CHARGE (coloboma, heart defects, atresia, retardation, genital, ear) syndrome is a genetic disease characterized by ocular coloboma, choanal atresia or stenosis and semicircular canal abnormalities. Most of the patients clinically diagnosed with CHARGE syndrome have mutations in chromodomain helicase DNA-binding protein 7 (CHD7) gene. The CHD7 gene is located on chromosome 8q12.1, and up to now, there are more than 500 pathogenic mutations identified in the literature. We report two patients diagnosed with CHARGE syndrome with two novel mutations in the CHD7 gene: the first patient has double consecutive novel mutations in three adjacent codons, and the other has a novel insertion.

Kabuki-Make Up Sendromu: Olgu Sunumu

Kabuki make-up sendromu, ilk kez Niikawa ve Kuroki tarafindan tanimlanan multiplkonjenital anomaliler, mental retardasyon, karakteristik yuz gorunumu, iskelet anormallikleri, eklem laksisitesi, kisa boy, parmak ucu yastikciklarinin belirginlesmesi veanormal dermatoglifik patern ile karakterize bir durumdur. Japonya’da daha sik oldugubilinen bu sendrom dunyanin degisik bolgelerinden bildirilmektedir. Unutkanlik, asirihareketlilik ve konusma bozuklugu nedeniyle getirilen olgu, mental retardasyon,davranis ve fonolojik bozukluklara eslik eden atipik yuz gorunumu olan olgularda Kabukimake-up sendromunun da dusunulmesi gerektigine dikkati cekmek amaciylasunulmustur