Can there be a genetic marker for Post-Traumatic Stress Disorder outside the Diagnostic Interview within the Scope of Forensic Psychiatry? / Travma Sonrasi Stres Bozuklugunun Adli Psikiyatri Kapsaminda Tani Görüsmesi Disinda Genetik Belirteci Olabilir mi?

OBJECTIVE: This study was conducted to investigate the role of two candidate polymorphisms to improve the diagnosis of Post-Traumatic StressDisorder (PTSD) in forensic psychiatry settings. METHODS: Individuals who applied to our unit with PTSD symptoms following a traffic accident were included. The control group consisted of people who had experienced a similar accident without any symptoms. Sociodemographic data-form, Hamilton Depression Rating Scale and Anxiety Sensitivity Index-3 (ASI 3) were applied to the patients and controls, and the frequencies of the rs8042149 polymorphic allele of the RORA gene and the rs717947 polymorphic allele (4p15) were investigated. RESULTS: A total of 103 people were included (54 case, 49 control). The rates of polymorphisms were not different between the groups. Higher education levels were associated with lower PTSD incidence while higher scores in the Social Subscale of ASI strongly predicted the occurrence of PTSD. CONCLUSION: The polymorphisms assessed did not help to differentiate the groups in the current sample. The potential of the Social Subscale of ASI-3 in predicting the occurrence of PTSD following a trauma should be evaluated in a longitudinal design.

Novel splice-site and missense mutations in the ALDH1A3 gene underlying autosomal recessive anophthalmia/microphthalmia.

AIM: This study aimed to identify the underlying genetic defect responsible for anophthalmia/microphthalmia. METHODS: In total, two Turkish families with a total of nine affected individuals were included in the study. Affymetrix 250 K single nucleotide polymorphism genotyping and homozygosity mapping were used to identify the localisation of the genetic defect in question. Coding region of the ALDH1A3 gene was screened via direct sequencing. cDNA samples were generated from primary fibroblast cell cultures for expression analysis. Reverse transcriptase PCR (RT-PCR) analysis was performed using direct sequencing of the obtained fragments. RESULTS: The causative genetic defect was mapped to chromosome 15q26.3. A homozygous G>A substitution (c.666G>A) at the last nucleotide of exon 6 in the ALDH1A3 gene was identified in the first family. Further cDNA sequencing of ALDH1A3 showed that the c.666G>A mutation caused skipping of exon 6, which predicted in-frame loss of 43 amino acids (p.Trp180_Glu222del). A novel missense c.1398C>A mutation in exon 12 of ALDH1A3 that causes the substitution of a conserved asparagine by lysine at amino acid position 466 (p.Asn466Lys) was observed in the second family. No extraocular findings-except for nevus flammeus in one affected individual and a variant of Dandy-Walker malformation in another affected individual-were observed. Autistic-like behaviour and mental retardation were observed in three cases. CONCLUSIONS: In conclusion, novel ALDH1A3 mutations identified in the present study confirm the pivotal role of ALDH1A3 in human eye development. Autistic features, previously reported as an associated finding, were considered to be the result of social deprivation and inadequate parenting during early infancy in the presented families.