Publications by authors named "Ghassan Balousha"
Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by impaired color discrimination, low visual acuity, photosensitivity, and nystagmus. To date, six genes have been associated with ACHM (CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, and ATF6), the majority of these being implicated in the cone phototransduction cascade. CNGA3 encodes the CNGA3 subunit of the cyclic nucleotide-gated ion channel in cone photoreceptors and is one of the major disease-associated genes for ACHM.
View Article and Find Full Text PDFBCAS3 microtubule-associated cell migration factor (BCAS3) is a large, highly conserved cytoskeletal protein previously proposed to be critical in angiogenesis and implicated in human embryogenesis and tumorigenesis. Here, we established BCAS3 loss-of-function variants as causative for a neurodevelopmental disorder. We report 15 individuals from eight unrelated families with germline bi-allelic loss-of-function variants in BCAS3.
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- The VWA1 gene encodes the von Willebrand Factor A domain containing 1 protein, which is crucial for the integrity of muscle and peripheral nerve tissues and interacts with collagen VI and perlecan, linked to neuromuscular disorders.
- Researchers discovered bi-allelic loss of function variants in VWA1 through exome sequencing, identifying it as the cause of a previously undefined neuromuscular disorder in affected individuals from diverse backgrounds.
- Symptoms of the disorder usually appeared in childhood or adulthood, featuring muscle weakness in the lower limbs, with myopathological and neurophysiological signs indicating both nerve and muscle damage, but without sensory issues.
A high rate of consanguinity leads to a high prevalence of autosomal recessive disorders in inbred populations. One example of inbred populations is the Arab communities in Israel and the Palestinian Authority. In the Palestinian Authority in particular, due to limited access to specialized medical care, most patients do not receive a genetic diagnosis and can therefore neither receive genetic counseling nor possibly specific treatment.
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- * Researchers used various genetic analysis techniques (like homozygosity mapping and exome sequencing) and identified likely disease-causing variants in 95% of the families studied, including new findings linked to specific conditions.
- * The findings suggest that prioritizing genetic testing can improve clinical care and genetic counseling for these families, given the impressive results with limited prior clinical research.
Purpose: Retinitis pigmentosa (RP) is a heterogenous group of inherited retinal degenerations caused by mutations in at least 45 genes. Recently, the FAM161A gene was identified as the causative gene for RP28, an autosomal recessive form of RP.
Methods: We performed a clinical and molecular genetic study of a consanguineous Palestinian family with two three siblings affected with retinitis pigmentosa.