Background: The association between vitamin D receptor (VDR) polymorphisms and the risk of asthma remains unclear. This study aimed to investigate the effect of VDR gene polymorphisms and VDR mRNA expression levels on respiratory function, nitric oxide levels in expiratory air, and serum vitamin D levels in children with asthma. Materials and Methods: The study included 80 healthy children (control group) and 100 asthmatic children (asthma group) between the age of 5 and 18 years. The VDR genotypes (ApaI, TaqI, and FokI) and VDR mRNA levels were determined in all groups. Results: There was no statistically significant difference in vitamin D levels between the asthma group and the control group (P > 0.05). A significant association was found between both genotype (CC) of the TaqI polymorphism [odds ratio (OR) = 0.2, 95% confidence interval (CI) (0.07-0.5), P = 0.003] and genotype (CA) of ApaI polymorphisms [OR = 0.2, 95% CI (0.07-0.8), P = 0.02], and asthma risk. In addition, when singlenucleotide polymorphism allelic frequencies between asthma and control groups were compared there is no significant association (P > 0.05). When compared to control group, VDR mRNA expression in asthma group decreased in genotypes CC and CA of ApaI and in genotypes TT and TC of TaqI (P < 0.05). Conclusion: The results provide supporting evidence for an association between TaqI and ApaI polymorphisms and asthma susceptibility.

Chromosomal rearrangements are usually associated with male factor infertility. We report here a 34-year-old man suffering from primary infertility for 15 years. The cytogenetic analysis and investigation of Y-chromosome microdeletions were performed. A reciprocal balanced translocation t (10;19) (q11.2;q13.4) was found in oligozoospermic infertile men with no Y-chromosome microdeletions. In this case, we aimed to evaluate the 46,XY,t (10;19) (q11.2;q13.4) karyotype, which was detected through a cytogenetic analysis of a person referred to our genetic laboratory due to primary infertility, in the light of the literature.

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Congenital isolated adrenocorticotropic hormone (ACTH) deficiency (IAD) is a rarely seen disease characterized by low serum ACTH and cortisol levels accompanied by normal levels of the other anterior pituitary hormones. In these patients, severe hypoglycemia, convulsions, and prolonged cholestatic jaundice are expected findings in the neonatal period. In this paper, we present two siblings with TBX19 gene mutation. The first case was investigated at the age of 2 months for severe hypoglycemia, recurrent convulsions, and prolonged cholestatic jaundice persisting since the neonatal period. The second sibling presented with hypoglycemia in the neonatal period. In both cases, baseline cortisol and ACTH levels were low and cortisol response to the low-dose ACTH test was inadequate, while all other anterior pituitary hormones were normal. Thus, IAD was suspected. Genetic analysis of the TBX19 gene was performed. Both cases were homozygous for c.856 C>T (p.R286*), and hydrocortisone treatment was initiated. The first patient did not attend the clinic regularly. On attendance at another hospital, hydrocortisone treatment was discontinued and antiepileptic treatment was initiated because of suspected epilepsy. This led to developmental delay, measured with the Denver Developmental Screening Test II (DDST-II), because of cessation of the hydrocortisone therapy. The second sibling had normal development, as measured with the DDST. In conclusion, TBX19 gene analysis must be performed if adrenal insufficiency is associated with isolated ACTH deficiency. Delay in diagnosis may lead to inappropriate diagnoses, such as epilepsy, and thus inappropriate therapy, which may result in neonatal mortality.

3MC syndrome MASP1 gene New mutation Amblyopia Premature loss of teeth BackgroundMalpuech-Michels-Mingarelli-Carnevale (3MC) syndrome consists of a combination of four autosomal recessive syndromes that were considered to be different syndromes previously. These syndromes are Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. Carnevale syndrome is characterized by hypertelorism, downslanting palpebral fissures, strabismus, ptosis, synophrys, large and fleshy ears, and lozenge-shaped diastasis around the umbilicus (Carnevale et al., 1989). Mingarelli syndrome is similar to Carnevale syndrome, with spinal anomalies and humeroradial synostosis as additional features (Mingarelli et al., 1996). Malpuech syndrome involves intrauterine growth restriction, hypertelorism, cleft lip and palate, micropenis, hypospadias, caudal appendage, and renal anomalies (Kerstjens-Frederikse et al., 2005). The main features of Michels syndrome include craniosynostosis, epicanthus inversus, blepharophimosis, anterior chamber anomalies, and cleft lip and palate (Michels et al., 1978). Although these four entities have apparently distinctive key features, they share multiple similarities in the facial gestalt. Because of these similarities, it has been assumed that these four syndromes belong to the same condition referred to as '3MC syndrome' (Titomanlio et al., 2005). Homozygous mutations in either MASP1 or COLEC11 genes are the leading cause of 3MC syndrome. Recently, the COLEC10 gene was discovered as the cause of the disease. Here, we report three new patients with 3MC syndrome in a Turkish family. Sequence analysis of the MASP1 gene showed a novel homozygous missense mutation, c.2111T > G (p.V704G), in the 11th exon.

<b><i>Objective:</i></b> Pathogenic mutations of the <i>TRAPPC9</i> gene are the rare genetic causes of autosomal recessive intellectual disability (ID). There are several features that are not fully penetrant such as microcephaly, dysmorphic facial features, obesity, autism spectrum disorder (ASD), attention-deficit hyperactivity disorder (ADHD), and brain abnormalities in <i>TRAPPC9</i> mutations. <b><i>Methods:</i></b> We performed whole-exome sequencing to evaluate 2 Turkish siblings with ASD and ID born to healthy and consanguineous parents. Parental samples were also analyzed, specifically targeting variants detected in these patients. <b><i>Results:</i></b> We present a novel homozygous mutation in the <i>TRAPPC9</i> gene, c.484G&#x3e;T (p.Glu162Ter). Additionally, we aim to provide a more comprehensive understanding of the clinical features of a novel homozygous <i>TRAPPC9</i> mutation. In addition to ID, the siblings in this report suffered from ASD and specific stereotypes as hand-flapping behavior. <b><i>Conclusion:</i></b> Although there are inconsistencies in the presentation of ASD in <i>TRAPPC9</i> mutations, repetitive behaviors (hand-flapping ) were typical in our cases and several previous reports. The current mutation was described to cause a homozygous premature termination codon that resulted in the absence of the <i>TRAPPC9</i> protein. We suggest that <i>TRAPPC9</i> mutations are not only related to ID but also to ASD and hand-flapping behaviors.

Oculocutaneous albinism (OCA) is a disorder of melanin biosynthesis characterized by hypopigmentation of the skin, hair, and retinal pigment epithelium. We present the clinical and laboratory features of two siblings, born to consanguineous Turkish parents, who were diagnosed with autosomal recessive OCA type 7. We detected a homozygous mutation in the C10ORF11 gene (p.A23Rfs * 39) in both patients. Interestingly, the medical history revealed that both patients had suffered from recurrent respiratory tract infections since birth. The patients were investigated for suspected immunodeficiency and the results of the immune screening assays were normal. We believe these patients are noteworthy to report since presentation with infections has not been described in the prior descriptions of OCA type 7. As of this current writing, infectious problems have stopped in one of our cases since the age of five and a half years. Keywords: Oculocutaneous albinism type 7, recurrent infection, immune system, genetic analysis, C10ORF11 gene

Background. Chronic mucocutaneous candidiasis (CMC) is characterized by recurrent or persistent infections of the skin, nail, oral, and genital mucosa with Candida species, mainly Candida albicans. In a single patient, the first genetic etiology of isolated CMC autosomal recessive interleukin-17 receptor A (IL-17RA) deficiency was reported in 2011.Case. We report four patients with CMC who displayed autosomal recessive IL-17RA deficiency. The patients were from the same family, and their ages were 11, 13, 36, and 37 years. They all had their first CMC episode by six months of age. All patients manifested staphylococcal skin disease. We documented high IgG levels in the patients. In addition, we found the coexistence of hiatal hernia, hyperthyroidism, and asthma in our patients. Conclusions.Recent studies have provided new information on the heredity, clinical course, and prognosis of IL-17RA deficiency. However, further studies are needed to reveal the full picture of this congenital disorder.