The prevalence of consanguinity within the Israeli Arab community is relatively high, and is associated with high rates of inherited disorders that lead to a high frequency of morbidity and mortality. Data on consanguinity between couples were recorded during two periods (1980-1985 and 2000-2004) in relation to socioeconomic status of 4 selected villages. Two of the villages (A and B) are known to have high socioeconomic status, and the other two (C and D) are known to have low socioeconomic status. The average incidence of consanguineous marriages has slightly decreased from 33.1% in the first period to 25.9% in the second period (P = 0.0218) in all of the 4 villages. Marriages between first cousins showed a more significant decrease, from 23.9% in the first period to 13.6% in the second period (P < 0.0001). The average consanguinity rates of villages A and B were found to decrease from 22.3 to 16.2% respectively (P < 0.001) between the two observation periods, whereas those of villages C and D were found to decrease from 42.3 to 37.2%, (P < 0.001) during the same two periods. Thus, there has been a change in the pattern of consanguinity within the selected Israeli Arab villages, between the two study periods. This change seems to correlate with the sociodemographic status of the villages. Therefore, improving the socioeconomic status of the villages, as well as implementation of proper health education programs, is expected to have a positive effect in reducing consanguinity.
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.
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.