PTRH2 is an evolutionarily highly conserved mitochondrial protein that belongs to a family of peptidyl-tRNA hydrolases. Recently, patients from two consanguineous families with mutations in the PTRH2 gene were reported. Global developmental delay associated with microcephaly, growth retardation, progressive ataxia, distal muscle weakness with ankle contractures, demyelinating sensorimotor neuropathy, and sensorineural hearing loss were present in all patients, while facial dysmorphism with widely spaced eyes, exotropia, thin upper lip, proximally placed thumbs, and deformities of the fingers and toes were present in some individuals. Here, we report a new family with three siblings affected by sensorineural hearing loss and peripheral neuropathy. Autozygosity mapping followed by exome sequencing identified a previously reported homozygous missense mutation in PTRH2 (c.254A>C; p.(Gln85Pro)). Sanger sequencing confirmed that the variant segregated with the phenotype. In contrast to the previously reported patient, the affected siblings had normal intelligence, milder microcephaly, delayed puberty, myopia, and moderate insensitivity to pain. Our findings expand the clinical phenotype and further demonstrate the clinical heterogeneity related to PTRH2 variants.

Despite the increased global prevalence and recognition of autistic spectrum disorder (ASD), it is still scarcely reported in the Arab world. Though Israel has a higher prevalence of ASD, a previous national survey of patients diagnosed between 1972 and 2004, demonstrated that 98% of them were of Jewish ancestry. The disproportional low number of Arab children with ASD in Israel is unclear but may reflect lower awareness and cultural bias. In the present study we collected clinical and demographic characteristics of 200 children with ASD from Arab and Jewish sectors in Israel that were evaluated in two child development centers. We compared the incidence and the medical comorbidity of autism between these two ethnics groups. The medical and psychiatric comorbidity profile in these children was similar to the worldwide published studies. In the present study the prevalence of autism in the Arab sector in Israel was similar to that of the Jewish sector. The Arab patients presented with more severe autistic manifestations and higher incidence of mental retardation, familial members with autism, and consanguinity (P<0.05), while in the Jewish sector milder forms (such as Asperger syndrome and PDD-NOS) were more frequent. This discrepancy might be explained by both genetic and cultural factors.

Type 2 Diabetes Mellitus (T2DM) is becoming increasingly prevalent and is considered to be a major public health threat worldwide. Behavioral and sociodemographic factors associated with T2DM vary within different societies. The aim of this study is to determine the various behavioral and sociodemographic factors associated with T2DM in the Arab society in Israel. A cross-sectional study was conducted based on data from 1,894 residents over the age of 21 belonging to the Arab population in Israel. The data collected from the subjects were subjected to statistical analyses using the SPSS program. Of the total sample population, 13.7% were found to be affected with T2DM. The prevalence of T2DM increased sharply in the successive age groups of both men and women. The prevalence of T2DM was found to increase progressively particularly in women with an increase in BMI (~20%, 37% and 44% respectively), while, in men it increased sharply (from 25% to ~50%) until a BMI of 29.9; it then decreased drastically (to ~24%) for a BMI of ≥30. About 85% of the men affected with T2DM were physically inactive, while 97% of the affected women were physically inactive. Almost half of the participants with diabetes have a family history of the disease in both genders. In the multivariate analysis, it was found that age, obesity, physical inactivity and family history of the disease were the significant factors associated with the prevalence of diabetes. It could be concluded that age, obesity, family history and physical inactivity were the significant factors associated with the prevalence of T2DM within the Arab society in Israel.