ABS TRACTPeroxisomes are involved in various metabolic reactions.Rhizomelic chondrodysplasia punctata (RCDP) type 1 is one of the peroxisomal biogenesis disorders caused by mutations in the PEX7 gene and is inherited in an autosomal recessive manner.We present a nine-year-old boy with skeletal abnormalities and dysmorphic facial appearance.The patient was born to parents who were first cousins.Very-long-chain fatty acids and pristanic acid levels were in the normal range, but an elevated phytanic acid level was detected by gas chromatography/mass spectrometry.The PEX7 gene was sequenced in the patient and his parents.A novel homozygous mutation, c.192delT (p.F64Lfs*10), was identified in the patient and was present in heterozygosity in both parents.In conclusion, the clinical presentation and peroxisome profile of the patient suggest that this novel mutation leads to RCDP type 1.
In this study, we aimed to better understand the genetic transmission of bipolar disorder by examining the family history of patients.Sixty-three patients with bipolar disorder and their families were included. The final sample comprised 156 bipolar patients and their family members. An inclusion criterion was the presence of bipolar disorder history in the family. The diagnosis of other family members was confirmed by analyzing their files, hospital records, and by calling them to the hospital.Sixty-five patients were women (41.6%) and 91 were men (58.3%) (ratio of men/women: 1.40). When analyzing the results in terms of the transition of disease from the mother's or father's side, similar results were obtained: 25 patients were from the mother's side and 25 patients were from the father's side in 63 cases.The results of our study support the fact that a significant relationship exists between the degree of kinship and the heritability of bipolar disorder and, furthermore, that the effect of the maternal and paternal sides is similar on the transmission of genetic susceptibility.
Objective:The aim of this study was to investigate the spectrum of Mediterranean fever (MEFV) gene mutations and genotypephenotype correlation in children with familial Mediterranean fever (FMF) in southeast Turkey.Methods: A total of 507 children (274 females) with FMF and MEFV gene mutation(s) were included.A 15-year retrospective evaluation was conducted; parameters analyzed were: age, sex, age at symptoms onset, age at FMF diagnosis, delay between symptoms onset and diagnosis, FMF attack symptoms, and response to colchicine.Disease severity scores were calculated and MEFV mutation analysis was performed via real-time PCR for the 6 most frequent mutations.Children with comorbid diseases or tested negative for MEFV gene mutations were excluded to provide homogeneity.Results: A family history of FMF was found in 60.2% (n= 305) of patients.The most common symptoms reported for FMF attacks were abdominal pain (98.0%), fever (93.9%) and arthralgia (47.3%); 75.0% of patients (n= 380) were heterozygous, 14.2% were homozygous (n= 72) and 10.8% were compound heterozygous (n= 55).The following MEFV gene mutation alleles were identified: E148Q (40.1%),M694V (25.9%),V726A (15.8%),R761H (7.4%), M680I (6.8%), and P369S (4.1%).The M694V subgroup had the lowest mean age of disease onset and the highest mean disease severity score, whereas the E148Q group had later mean disease onset and the lowest mean disease severity score (p<0.05). Conclusion:The highest E148Q mutation frequency and milder disease in the course of FMF in our study population may be due to geographic and ethnic background dissimilarities of southeast Turkey.
Pompe disease is inherited in an autosomal recessive manner, and is usually observed in the children of asymptomatic carriers. Pompe disease, known as Glycogen Storage Disorder type II, is caused by pathogenic mutations in the gene encoding lysosomal acid alpha-glucosidase ( GAA ). There are three types of Pompe disease: classical infantile form, non-classical infantile form and late-onset Pompe disease. Age of onset and severity of the disease determine the type of Pompe disease. We aimed to identify a mutation in GAA gene in parents who were first cousins and their baby girl was passed away due to the Pompe disease. The baby girl had reduced acid alpha-glucosidase activity, but genetic analysis had not been performed. Mutation analysis of parents was performed using high-throughput DNA sequencing method. Heterozygous mutation of c.896 T>C in exon 5 was found in parents, and prenatal diagnosis was performed for their next pregnancy. In conclusion, c.896 T>C substitution in GAA gene may lead to the severe type of Pompe disease. Using a relatively fast and reliable molecular genetic analysis method to confirm the early diagnosis of the Pompe disease is important for the management of the disease. Key words: Pompe disease, GSD2, GAA deficiency, high-throughput DNA sequencing
