Childhood-onset dystonia, optic atrophy, and basal ganglia signal abnormalities (DYTOABG) is a rare mitochondrial fatty acid synthesis (mtFAS) defect and is caused by MECR gene mutations. Here, we report a patient who was diagnosed with DYTOABG and detected compound heterozygous mutations (c.772C > T/p.Arg258Trp and c.1009C > T/ p.Arg337Ter) in the MECR (NM_016011.4) gene using whole exome sequencing (WES). A 5-year-old female child, born out of nonconsanguineous marriage, was presented to the genetic department with dystonia. She was born at 35th weeks of gestation by caesarean section due to preeclampsia following an uneventful pregnancy with normal birth measurements and had no dysmorphic feature. She was the second child of her family and the fifth pregnancy of her mother. Her parents and elder brother were healthy and none of them presented with any neurological disease. Three fetuses of the parents were exposed to unexplained spontaneous abortions. According to the proband's mother, the disease started with a gait disturbance at 3.5 years of age and the patient had frequent falls. Cranial magnetic resonance imaging (MRI) was performed on the patient and the basal ganglia signal abnormalities were observed at 4 years of age ([Fig. 1A]). The patient was hospitalized with a severe respiratory tract infection and connected to a mechanical ventilator due to respiratory failure at 5 years of age. Cerebral and cerebellar atrophy were observed in addition to the detected basal ganglion signal abnormalities of the patient at the same time in the cranial MRI ([Fig. 1B]). Also, epilepsy and dystonia started during this period. Bilateral optic atrophy was detected in an eye examination at 5.5 years of age. The laboratory tests for inborn error of metabolism in the blood and urine of the patient were normal. The patient's muscle histopathologic examination that was performed by staining muscle samples for respiratory chain enzymes and ragged red fibers was normal. There was no histological argument for mitochondrial disorders. She was diagnosed with DYTOABG using next-generation sequencing (NGS) combined with Sanger's sequencing for the definite diagnosis. We detected compound heterozygous variations (c.772C > T/p.Arg258Trp and c.1009C > T/ p.Arg337Ter) in the MECR gene and these two variations were not found together in other healthy family members ([Fig. 1C]). The variant c.772C > T has been previously reported in the literature but the other variant c.1009C > T has not been previously reported in the Human Gene Mutation Database (HGMD; http://www.hgmd.cf.ac.uk/ac/index.php ) and according to The American College of Medical Genetics and Genomics (ACMG) criteria, it is classified as pathogenic. To our knowledge, seven patients from five unrelated families diagnosed with DYTOABG have been reported, and six different mutations have been detected associated with the disease in the literature. The clinical and radiological features of our patient were similar to these patients.[1] In summary, our patient, who has a novel mutation (MECR; c.1009C > T; p.Arg337Ter), is the eighth case reported in the literature with DYTOABG.

Peroxisomal disorders are a heterogeneous group of diseases caused by mutations in a large number of genes. One of the genetic disorders known to cause this situation is ACBD5 (Acyl-CoA binding-domain-containing-5) gene mutations that have been described in recent years. Here, we report two siblings with a novel homozygous nonsense variation (c.1297C>T, p.Arg433*) in ACBD5 (NM_145698.4) gene using Clinical Exome Sequencing (Sophia Genetics).

Background: We aimed to investigate haplotypes and alleles of two variants (rs2794521, rs3091244) previously found to be associated with C reactive protein (CRP) production in AS patients, and to examine their relationship with ASDAS CRP and ASDAS ESR values. Methods: We evaluated 160 AS patients diagnosed according to the ASAS criteria. ASDAS-CRP, ASDAS-ESR values were calculated. Erythrocyte Sedimentation rate (ESR) and CRP was examined. The restriction fragment length polymorphism (RFLP) method was used for detecting the rs2794521 and rs3091244 regions on the CRP gene. Results: As a result of the evaluation of rs2794521 gene polymorphism using PCR; TT, TC and CC genotypes were observed in 90, 81 and 9 individuals. As a result of the evaluation of rs3091244 gene polymorphism; CC, AC and TT genotypes were observed in 104, 51 and 5 individuals. T allele and C allele were found in rs 2794521 gene by 75% and 25%. In addition, T allele, C allele and A allele were found in rs 3091244 80 gene by %80, 17% and 3%. There was no correlation between CRP (rs 2794521, rs 3091244) haplotypes and alleles with CRP levels (p> 0.05). ASDAS-CRP and ASDAS-ESR levels were found to be higher in the rs3091244 C allele group. With the help of regression equation, ASDAS-CRP level was 0.34 units higher in cases with rs 3091244 C allele than cases without rs 3091244 C alleles. Conclusion: CRP rs3091244 C allele may be associated with the increased relative risk for ASDAS-CRP.

Introduction: Genetic causes of the intellectual disability Nonsyndromic Autosomal-Recessive Intellectual Disability Syndrome (MRT47, MIM 616193) are mutations in the recently described FMN2 (formin 2 gene). Case report: A boy with intellectual disability had a novel homozygous nonsense mutation (c.2245C > T/p.Gln749*) leading to a premature stop codon in exon 6 of the FMN2 (NM_001305424) gene detected by Clinical Exome Sequencing (CES). Conclusion: Clinical features of a patient with a novel nonsense FMN2 mutation is presented. We urge the change in the OMIM nomenclature from Mental Retardation, Autosomal Recessive 47 (MRT47, MIM 616193) to 'Nonsyndromic Autosomal-Recessive Intellectual Disability Syndrome'.