Identification of a Novel Homozygous Mutation in BBS10 Gene in an Iranian Family with Bardet-Biedl Syndrome

Background: Bardet–Biedl Syndrome (BBS) is a rare pleiotropic autosomal recessive disease related to ciliopathies with approximately 25 causative genes. BBS is a multisystemic disorder with wide spectrum of manifestations including truncal obesity, retinal dystrophy, male hypogenitalism, postaxial polydactyly, learning difficulties, and renal abnormalities. Methods: A consanguineous Iranian family with a 28-year-old daughter affected with BBS, resulting from a first cousin marriage, was examined. After clinical examination, Whole Exome Sequencing (WES) was applied. Following the analysis of exome data, Sanger sequencing was used to confirm as well as to co-segregate the candidate variant with the phenotype. Results: A novel homozygous variant [c. 2035G>A (p.E679K)] in exon 2 of the BBS10 gene was found which was categorized as likely pathogenic based on American College of Medical Genetics and Genomics (ACMG) guidelines and criteria. In this study, the variant was fully co-segregated with the phenotype in the family. Conclusion: Despite overlapping with other ciliopathies in terms of the phenotype, the BBS has high genetic heterogeneity and clinical variability even among affected members of a family. The symptoms observed in patients are largely related to the genes involved and the type of mutations in the BBS. In this study, in addition to phenotype description of the proband harboring a novel disease-causing variant in BBS10 gene, the spectrum of BBS symptoms was expanded. The findings of this study can be useful in genetic counseling, especially for risk estimation and prenatal diagnosis.

Patterns of Cleft Lip and Cleft Palate in Southern Pakistani Population

Objectives: To determine various types of cleft lip and palate, its geographical distribution and its association with cousin marriages, family history and other craniofacial syndromes in the Southern Pakistani population. Study design: Cross-sectional study Place and Duration of Study: Plastic Surgery Department of Sheikh Zayed Medical College / Hospital, Rahim Yar Khan and Hamza Medicare, Rahim Yar Khan from January 2020 to March 2021. Methodology: All patients who presented to the outpatients department with cleft deformities of lip and palate, irrespective of their age and gender were included in the study. Patients who were operated previously and those who were not agree with the study protocol were excluded from the study. The data were collected through a structured proforma as well as history and physical examination. The data were organized and analyzed through Statistical Package for Social Sciences version 23. Results: Total of 403 patients with cleft lip and palate deformities were included in this study, with an average age of 39±62 months. Out of total 239 59.3% were males with male to females ratio of 1.4:1. Cleft lip with cleft palate, cleft palate only and isolated cleft lip were found in 56.8%, 13.4% and 29.20% of cases respectively and 2 (0.5%) cases of median cleft. Out of total, 155 (38.5%) were from Southern Punjab, 50.6% from Sindh and 10.9% were from Baluchistan Province. In 386 (95.8%) cases parent had a History of cousin marriage, and family history of Cleft Lip & Cleft Palate was positive in 67 (16.6%) cases. Other congenital anomalies were found in 12.5% of cases. Conclusion: Cleft lip and palate deformities affected the male population more than females. Cleft lip in association with cleft palate is the commonest deformity. Isolated cleft palate mainly affected females. The high incidence of these anomalies in cousin marriages emphasizes educating the people to avoid cousin marriages. Key Words: Cleft Lip, Cleft Palate, Consanguinity, Family history. Congenital deformities

ASSESSMENT OF THE FREQUENCY OF DIFFERENT PATTERNS OF CLINICAL PRESENTATION OF CHILDREN PRESENTING WITH CONGENITAL ADRENAL HYPERPLASIA

Objective: To assess the frequency of different patterns of presentation of children presenting with congenital adrenal hyperplasia. Methodology:It was a cross sectional study conducted at the department of Pediatric, Fatima Memorial Hospital, Lahore, from19-12-2017 to 19-06-2018.92 infants who met the selectin criteria were recruited for the study. Then blood sample was obtained and if serum sodium <135mEq/L, then salt depletion was labeled. Then, infants underwent genital examination for assessment of genital virilization. All data is entered is specially designed Performa and analyzed in SPSS. Results: The mean age of patients was 6.52±3.56months. There were 49 (53.26%) male while 43 (46.74%) female infants. The mean weight of patients was 5.59±1.44kg. There were 21 (22.83%) cases of consanguineous marriage while 71 (77.17%) were other than cousin marriage. There were 63 (68.48%) had salt depletion while in 29 (31.52%) did not had salt depletion. There were 39 (42.39%) had genital virilization while in 53 (57.61%) did not had genital virilization. Conclusion: Thus the frequency of patterns (salt depletion and genital virilization) of Congenital adrenal hyperplasia are high in local population.

Long runs of homozygosity are correlated with marriage preferences across global population samples

Children of consanguineous unions carry long runs of homozygosity (ROH) in their genomes, due to their parents’ recent shared ancestry. This increases the burden of recessive disease in populations with high levels of consanguinity and has been heavily studied in some groups. However, there has been little investigation of the broader effect of consanguinity on patterns of genetic variation on a global scale. Here, we collect published genetic data and information about marriage practices from 396 worldwide populations and show that preference for cousin marriage has a detectable effect on the distribution of long ROH in these samples, increasing the expected number of ROH longer than 10Mb by a factor of 1.5 (P=2.3 × 10−4). Variation in marriage practice and consequent rates of consanguinity is therefore an important aspect of demographic history for the purposes of modeling human genetic variation. However, marriage practices explain a relatively small proportion of the variation in ROH distribution and consequently the ability to predict marriage practices from population genetic samples (for example of ancient populations) is limited.

The practice of Cousin Marriage in the Community of Kalola Village, Pasangkayu Regency, West Sulawesi

The aim of this paper is to discuss the practice of cousin marriage in the community of Kalola Village, Pasangkayu Regency, West Sulawesi. This study uses qualitative methods and data was gathered through observation, in-depth interviews, and written material. Data analysis was analyzed using grounded theory approach. the background of a cousin marriage in the Mandar tribe community in Kalola Village is a tradition that has been strong for a long time in the community, in addition to the factor of maintaining a large family and protecting property. Meanwhile, the impact of cousin marriage includes both positive and negative impacts. The positive impact is to reduce the number of conflicts in the community and strengthen local political systems, while the negative impact is the breakdown of kinship in the event of conflict and divorce and health risks.

Implementation of Religious Activities in Increasing the Spiritual Intelligence of Students

The aim of this paper is to discusses the practice of cousin marriage in the community of Kalola Village, Pasangkayu Regency, West Sulawesi. This study uses qualitative methods and data was gathered through observation, in-depth interviews, and written material. Data analysis was analyzed using grounded theory approach. The results show that the religious activities in MAN insan Cendekia Palu City were congregational prayer activities, qiroatul quran, tahfiz Alquran, Qiro'ah qabla naum, Ratibul haddal / barzanji, polar Qiraatul / book study, three-language cult. The religious activities are carried out outside school hours, from 05.00-05.30 and continued at 18.30-19.15 and then continued again at 21.45-22.00, the activities are carried out at the mosque for male students and in the dormitory for girls, for brazanji and evening prayers and Isha all students carry out in the mushollah. Togetherness activities have six coaches, namely 3 male dormitory coaches and 3 female coaches, the friendship activity supervisor is a competent coach with activities carried out by the implementation process itself carried out by providing training, coaching and habituation so that the expected goals can be achieved.

Implementation of Group Investigation Cooperative Learning Model in Increasing student learning participation

The aim of this paper is to discusses the practice of cousin marriage in the community of Kalola Village, Pasangkayu Regency, West Sulawesi. This study uses qualitative methods and data was gathered through observation, in-depth interviews, and written material. Data analysis was analyzed using a grounded theory approach. The results showed that the learning participation of students in the implementation of the cooperative learning model type Group Investigation before, namely: from 20 students that, the results of student participation in interaction activities were classified as low seeing the students, compiling only 7 people, responding (asking and answering ) only 5 people and accepted in the teacher's explanation only 10 people and and the indicator of students' learning participation was low as seen from the skill scores of these students, while after the implementation of the cooperative learning modeltype group investigation experienced a significant increase, there were 20 students. That the results of student participation in interaction activities compose 19 people, respond (ask and answer) 14 people, and accept in the teacher's explanation 14 people and indicators of increasing student learning participation also increase, it can be seen that the skill value of these students.

Improving Students’ Cognitive and Affective Domains Students through Fostering Teacher Development

The aim of this paper is to discusses the practice of cousin marriage in the community of Kalola Village, Pasangkayu Regency, West Sulawesi. This study uses qualitative methods and data was gathered through observation, in-depth interviews, and written material. Data analysis was analyzed using grounded theory approach. The results showed that the foster teacher pattern applied in MAN Insan Cendekia Palu City was a form of activity and guidance that was relative and consistent, and a series of active efforts that made a large contribution to students, in improving intellectual / academic aspects as well as good attitudes. . So that the foster teacher pattern is used as a series of activities as a vehicle to educate, nurture and socialize children in developing their abilities, in order to achieve family, community and school expectations. Some educators who serve as foster teachers apply authoritarian parenting with the aim that students are clear and do not repeat mistakes, and also authoritative parenting which provides more understanding and good guidance without heavy pressure and punishment.