Ghazwani et al. (2016) investigated the genetic mutations affecting 10 Fanconi anaemia (FA) patients in a Saudi Arabian hospital.  All patients were from consanguineous families and of Saudi origin.  Four patients, 2 girls aged 4 and 6; and 2 boys aged 8 and 10, were from four different Saudi tribes.  They all suffered from microcephaly, growth retardation, café au lait spots, hypopigmentation and kidney abnormalities. They were all diagnosed with severe aplastic anaemia. However, none of the four patients had any malignancies or a family history of cancer.  These patients were found to have a mutation in the BRIP1 gene.  The detected mutation, a homozygous c.2392C>T transition resulting in p.Arg798*, was not found in 50 ethnically-matched non-FA controls but has been previously reported in FA patients of other ethnic groups.  The authors also specified that in comparison to European FA patients, most Saudi mutations were in downstream FA pathway genes.  Thus the FANCD2 monoubiquitination assay, used to screen eight genes involved in FANCD2/FANCI monoubiquitination, was considered an ineffectual diagnostic tool for Saudi FA cases. 

In a retrospective study of breast cancer patients in the UAE, Altinoz et al (2020) identified an Emirati patients with pathogenic variants in the BRIP1 gene. An additional Emirati patient was found to have a variant of uncertain significance in the same gene.