Determine a mutation in a daughter suffer from hydrocephalus and developmental disorder

Background and Aim : A case is a two months old girl in family in Ahwaz city with first cousin relationship of her parents. she is suffering from Hydrocephalus, developmental disorder, skin problem and hearing loss.The older sister is dead in first two months from heart disease.Methods : Whole Exom sequencing of the individual,s genome subjected for this case was done.so the analysis was focused on the genes responsible for Hydrocephalus,(AP1S2,CCDC88C,EML1,L1CAM,MPDZ ,WDR81).Intellecual disability ,(495 genes) and hearing loos , 167 genes.this variant is related with Jawad syndrome:microcephaly ,mental retardation , and digital anomalies .It caused by hemozygous mutation in RBBp8 gene .Seckel syndrome-2 ,a microcephaly syndrome involving growth retardation and a characteristic facial appearance is also caused by mutation in the RBBP8 gene.Results : The results showed that some variants of dbSNP exist in the genome. No strict and pathogenic mutation was found in genes responsible for these diseases. However, the in silico analysis predicted that the variant PBBP8: CD800CGG> CAG/CD800> CGG seems to be likely pathogenic.Conclusion : The result is VUS and must be confirm using Sanger sequencing method and Segregation and functional analysis are needed for checking the variant. We referred family to do that.

کلیدواژه ها:

Hydrocephalus ، Whole Exom sequencing ، RBBP8 gene