PEX11β ([OMIM] 614920) MUTATION causes an extremely rare subgroup of peroxisomal bioGENEsis disorders, with only six cases reported to date. In this article, we reported a patient with episodic migrainelike attacks, delirium, mood and behavior change, polyneuropathy, and history of congenital cataract. Whole exome sequencing showed novel c. 743_744delTCinsA MUTATION in the exon 4 of the PEX11β GENE. In contrast to previously reported patients, our case presented milder features and extended the spectrum of the clinical phenotype of this MUTATION. This study helps to extend the phenotype of this syndrome; besides, recognizing novel MUTATION variants will provide a better genotype-phenotype correlation and improve clinical clues.

Inclusion-cell (I-cell) disease (mucolipidosis II) is a rare inherited metabolic disorder resulting from a defective phosphotransferase, characterized by coarse facial features, skeletal abnormalities and mental retardation. As clinical feature of this condition mimic that of Hurler disease MUTATION studies help in the diagnosis. We present a case of I-cell disease in a neonate with Nacetylglucosamine-1-phosphate transferase alpha and beta subunits (GNPTAB) GENE MUTATION.

Introduction. Cystinuria is an inherited disorder affecting luminal transport of cystine and dibasic amino acids. Because of the poor solubility of cystine in urine, stone formation in the kidney occurs frequently. Cystinuria is associated with MUTATIONs in the SLC3A1 and SLC7A9 GENEs. Despite the population-specific distribution of MUTATIONs in the SLC7A9 GENEs, there are few GENEtic data reported for cystinuric patients from the Middle East. Materials and Methods. Exon 4 of the SLC7A9 GENE was sequenced in 21 patients with cystinuria, using the polymerase chain reaction and sequencing methods. Results. A new variation in exon 4 of the SLC7A9 GENE was identified, which was insertion of 1 adenine nucleotide between 2 cytosine nucleotides in position c. 272-273 insA. Conclusions. It seems to be important since it causes frame shift and it may be an important cause to make disease.

Background: About 10% of infertilities with obstructive azoospermia are congenital and caused by CF GENE MUTATIONs. M469I MUTATION was observed for the first time in Taiwanese patients. This MUTATION not only causes CF, but also may be the origin of infertility too.Objective: In this study, we aimed in designing a rapid, reliable RFLP-PCR procedure for detection of M469I MUTATION. The correlation and association between M469I MUTATION with infertility was investigated in this study.Materials and Methods: one hundred ten patients (90 non obstructive and 20 obstructive) and 60 normal individuals were considered in this study. M469I MUTATION was detected using RFLP-PCR. This technique was completely designed for M469I genotyping, for the first time in our study. Amplification of the region surrounding the MUTATION in exon 10 of CFTR GENE was then performed. RFLP analysis was carried out using the Nde I restriction enzyme.Results: All genomic DNA samples were genotyped successfully. M469I MUTATION was observed only in patients group. Therefore, genotype containing mutant allele (GT) has been detected only in the patients group. There was no significant correlation between GT and TT genotypes with infertility (p=0.437).Conclusion: The M469I MUTATION has only been observed in Exon 10 CFTR GENE of infertile patients, not in the control group. This MUTATION causes congenital bilateral absence of vaz deferens and finally infertility. This indicates a strong association between the M469I MUTATION and male infertility. Therefore, this is a CF-causing CFTR MUTATION that could be considered as a cause of infertility.

Objective Canavan disease (CD) is a type of vacuolating leukodystrophy with autosomal recessive inheritance. Aspartoacylase deficiency results in decrease of myelin biosynthesis, dysmyelination and brain edema. Although CD is a very common in Ashkenazi Jews patients, several cases have been reported from non-Jewish population. This report is based on a homozygous C.202G>A MUTATION in the ASPA GENE identified from an Iranian patient. To our knowledge, this type of MUTATION has not been reported in non-Jewish population in the literature.