Background: Non syndromic oculocutaneous albinism type (OCA) is caused by mutations in tyrosinase (TYR), OCA2, TYRP1, MATP (SLC45A2), SLC24A5 and C10ORF11 genes. Screening for mutations is important in families with oculocutaneous albinism patients in order to accurately diagnose the albinism type, genetic counseling and future therapeutic purposes.
Objectives: The Aim of this study was to investigate the founder effect of most frequent mutations in OCA patients.
Methods: TYR gene was sequenced in 26 unrelated inbred OCA families as well as 56 unrelated healthy individuals. In addition, homozygosity mapping was performed using 13 STR markers for 6 OCA loci (TYR, OCA2, TYRP1, MATP (SLC45A2), SLC24A5 and C10ORF11 genes). Different mutations were found in these genes from which a single base duplication (c.286dupA) and two single base substitutions c.996G > A (p.M332I) and c.230G > A (p.R77Q) had the most frequencies among the OCA families. In order to investigate the founder effect of these mutations, the haplotypes of two STR markers (TYR-S1 and TYR-S2) inside the TYR gene were ascertained.
Results: It was revealed that families with similar mutation harbored similar haplotype for the TYR STR markers too. 
Conclusions: We conclude that these mutations are possible founder mutations in the Iranian population.

Background: Blepharophimosis-ptosis-epicanthus syndrome (BPES) is a rare genetic disorder with autosomal dominant inheritance. There are two distinct phenotypes: BPES type I, which is associated with eyelid abnormalities as well as female infertility or premature menopause due to ovarian resistance to gonadotropins, whereas in type II only eyelid abnormalities are present. Mutations in the forkhead transcription factor 2 (FOXL2) gene are responsible for both types of BPES.
Objectives: The purpose of this study was to identify mutations in FOXL2 in two Iranian families (from Tehran) with BPES who were referred to Tehran Medical Genetics laboratory.
Methods: The peripheral blood was collected from the affectedmembersof two BPES familiesandgenomicDNAwas extracted using salting out method. Then, direct sequencing of whole exon of FOXL2 genewas performed.
Results: Two frameshift mutations were identified in FOXL2 gene in two familial cases including NM_023067:c.102_103insA (p.G35Rfs*61)as a novel mutation and NM_023067:c.855_871dup (p.H291Rfs*71) (17-bp insertion). Both mutations cause the protein to be truncated and are responsible for a severe phenotype (BPES type I) which was in harmony with our finding.
Conclusions: Our results increased the spectrum of FOXL2 mutations and confirm the mutations associated with BPES type I.

Congenital enterokinase deficiency is a rare autosomal recessive disorder of gastrointestinal tract in newborns. Enterokinase initiates digestion of protein by conversion of trypsinogen into trypsin. We analyzed the parents of unaffected deceased newborn with congenital enterokinase deficiency by exome sequencing. The results of exome sequencing identified a novel heterozygous frameshift deletion, c.151-155del p.Ala51Trpfs*5, in TMPRSS15 gene. Direct sequencing confirmed that the couple had heterozygous status. TMPRSS15 gene mutations are completely rare. To date, one small deletion and three nonsense mutations are reported in this gene in Human Gene Mutation Database (HGMD®). The identified mutation leads to complete absence of enzymatic activity.

Background: The type II form of neurofibromatosis (NF2) is an autosomal dominant multiple neoplasia syndrome characterized by tumors of the eighth cranial nerve (usually bilateral), meningiomas of the brain, and schwannomas of the dorsal roots of the spinal cord. The incidence of neurofibromatosistype II is 1 in 25,000 live births.
Methods: To further understand the genetic spectrum of NF2, we analyzed an individual affected with multifocal schwanomatosis by whole exome sequencing. Potential candidate mutations were checked in additional familymembersto determine if the putative mutation segregated with disease status.
Results: No pathogenic variant was identified in NF1 and NF2 genes however, a novel nonsense homozygous mutation p.Q675X in PMS1 gene was identified. Direct sequencing confirmed that the patient is homozygous and her parents are heterozygous for the identified variant.
Conclusions: To the best of our knowledge it is the first report of involvement of PMS1 mutations in NF2. However, genetic testing of NF1 and NF2 genes in affected tissues to rule out somatic mutations as well as functional study for the identified variant are required to clarify under what circumstances mutations of this gene cause tumorigenesis.

Background: PRODH is one of the genes that exists in 22q11.2 location and encodes the prolin oxidase enzyme (POX) in the mitochondrial inner membrane and is expressed in the liver, kidney and brain. The importance of the accompaniment of the PRODH gene’s polymorphisms and mutations in increasing the risk of getting afflicted with schizophrenia has been proven in previous Linkage and Association studies. Proline dehydrogenase enzyme (POX) accelerates the converting of prolin into glutamate. Decreased enzyme causes hyperprolinemia resulting in increased proline and decreased glutamate. The activity of NMDA and AMPA receptors decrease and low activation of these receptors cause negative symptoms of schizophrenia disorder. V427M mutation in PRODH has been proven to decrease pox enzyme activity and is associated with schizophrenia disorder.
Objectives: In this project the rs2238731 variant in the PRODH gene was genotyped in 95 schizophrenic patients whose diseases are psychiatrically confirmed and also in 120 healthy people without any history of schizophrenia and bipolarity in their pedigree. For this purpose, their peripheral blood was taken.
Methods: In this study, the PCR-RFLP approach has been adopted in order to identify this variant. The SPSS 24.0 software has been used in order to statistically analyze the association of mutant variants and normal variants among the two groups afflicted with the disease and non-afflicted with the disease. The goal of this study was to shed light over the accompaniment of the rs2238731 variant in the PRODH gene with the risk of getting afflicted with schizophrenia among the Iranian patients.
Results: According to our result, there is no association between V427M missense mutation and schizophrenia disorder in Iranian patients. So the V427M missense mutation could not be regarded as co-related with increasing risk of schizophrenia in Iranian patients.

Background: Short tandem repeat (STR) markers are extensively being used forhumanidentification as well as paternity and forensic analysis of biological evidence.
Objectives: The aim of this study was to investigate the allelic frequencies and several forensic and paternity parameters of 15 autosomal short tandem repeat (STR) loci D3S1358, D16S5391, D7S820, D8S1179, D21S11, D18S51, D5S818, D13S317, FGA, THO1, TPOX, CSF1PO, vWA , D2S1338, and D19S433 in the Iranian population.
Methods: Estimation of allelic frequencies and several forensic and paternity parameters of 15 STR loci were performed with the AmpFLSTR Identifilerr kit (Applied Biosystems) for 274 unrelated individuals living in Iran.
Results: No deviation from Hardy-Weinberg equilibrium was found in any loci studied in this population. Among the 15 STR loci analyzed in the Iranian sample, the most discriminating loci were D21S11, D2S1338, D19S433, D18S51 and FGA with the highest power of discrimination. The allelic distribution also was compared to 13 other populations including 3 Iranian population living in Syria, Dubai, the USA and in Fars province and 8 population from published studies of Azerbaijan, Bolu in Turkey, Morocco, Syria, Iraq, Saudi Arabia, Turkey, East Anatolia, and Pakistan.
Conclusions: It was concluded that the population of present study had the least similarity with Azerbyjani (11 loci) and most similarity with the Iranian population in USA (15 loci).

Background: Chronic myeloproliferative disorders (CMPD) occur due toclonal proliferation of the single hematopoietic stem cells and result in an increased number of mature and immature cells in the peripheral blood. The mutations in JAK2 gene are identified in large numbers of CMPD patients.
Objectives: The aim of this study was to investigate thep.V617F (c.1849G > T) mutation as well as exon 12 mutations in JAK2 gene in the CMPD patients.
Methods: Philadelphia chromosome negative CMPD patients were recruited for this study. In order to study p.V617F and JAK2 exon 12 mutations in JAK2 gene, FRET probe real-time PCR, allele specific PCR and PCR-direct sequencing were utilized.
Results: JAK2 p.V617F mutation was found in polycythemia vera, Essential thrombocytosis and idiopathic myelofibrosis (67%, 52% and 50% respectively) but not in idiopathic erythrocytosis patients. Also no mutation was found in JAK2 exon 12 of these patients.
Conclusions: Our data regarding p.V617F was in concordance with the previous studies. The absence of any mutation in exon 12 of our patients may be due to extracting DNA from whole blood cells instead of granulocytes, that may impact the detection rate of cycle sequencing method.