GEMIN5 is a multifunctional RNA-binding protein required for the assembly of survival motor neurons. Several bi-allelic truncating and missense variants in this gene are reported to cause a neurodevelopmental disorder characterized by cerebellar atrophy, intellectual disability (ID), and motor dysfunction. Whole exome sequencing of a Pakistani consanguineous family with three brothers affected by ID, cerebral atrophy, mobility, and speech impairment revealed a novel homozygous 3bp-deletion NM_015465.5:c.3162_3164del that leads to the loss of NM_015465.5 (NP_056280.2):p. (Asp1054_Ala1055delinsGlu) amino acid in one of the α-helixes of the tetratricopeptide repeats of GEMIN5. In silico 3D representations of the GEMIN5 dimerization domain show that this variant likely affects the orientation of the downstream sidechains out of the helix axis, which would affect the packing with neighboring helices. The phenotype of all affected siblings overlaps well with previously reported patients, suggesting that NM_015465.5: c.3162_3164del (NP_056280.2):p. (Asp1054_Ala1055delinsGlu) is a novel GEMIN5 pathogenic variant. Overall, our data expands the molecular and clinical phenotype of the recently described neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) syndrome.
Intellectual disability (ID), also called mental retardation, is defined by below-average intelligence or mental aptitude as well as a lack of life skills. It has a significant association with residency, family history, and chromosomal disorder. An analytical cross-sectional study was performed over a period from December 2019 to January 2021 in special educations centers and hospitals of Lahore, Faisalabad, Shahkot, Sialkot, Gujranwala and Sangala, Punjab, Pakistan. This study was aimed to access the prevalence and risk factors of Intellectual disability (ID). Questionnaires were designed and filled with the help of general doctors, pediatricians, and psychiatrists who diagnosed both intellectual and adaptive functioning of individuals Association between these parameters was analyzed by using SPSS software (Chi-square test) between ID and risk factors and the level of significance was considered as P<0.05. The frequency of mild, moderate, severe, and profound ID was 46.7 %, 32.1 %, 14.6 %, and 6.7 % respectively. More males (56.82 %) as compared to females 43.17 % were observed.
A retrospective study on Congenital Cataract (CC) was performedbetween October 2015 to May 2016 during ophthalmological consultation at differenthospitals of Lahore. The aim of this research was to determine the incidence of lensextraction, nystagmus and blindness in congenital cataract patients in Lahore. Thediagnosis of Congenital Cataract (CC) was done with the help of ophthalmologists byusing visual acuity test, Snellen chart, ophthalmoscopy biomicroscopy and slit lampexamination. In this study, 180 congenital cataract patients were identified from 36000patients with different eye anomalies and prevalence of CC was 5.0/1000 population.According to gender the incidence of CC was greater (n= 138) in males as compared tofemales (n= 42). The average age of incidence of CC patients was 7.5 years. Theprevalence of blindness, lens extraction and nystagmus in these CC patients was about15% (n=27), 42.8% (n=77) and 42.2% (n=76) respectively. People with CC arediagnosed late in life and therefore have difficulty in accepting the results caused by CC.This will be particularly valuable in providing awareness among affected individualsand let them know proper treatment of diseases which ultimate reduce the total burden ofdisease.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.