\"In a patient (UW284-3) with Joubert syndrome (IBTS34; see 614175), Bachmann-Ga
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Question
"In a patient (UW284-3) with Joubert syndrome (IBTS34; see 614175), Bachmann-Gagescu et al. (2015) identified compound heterozygous mutations in the B9D2 gene: gly155-to-ser (G155S) inherited from the mother and pro74-toser (P74S; 611951.0004) inherited from the father The mutation was identified by sequencing 27 candidate genes in 428 affected individuals from 363 families by molecular inversion probe targeted capture followed by next-generation sequencing. No functional studies of the variant were performed." Q: Do compound heterozygous mutations relate to how the same gene can be mutated different ways leading to the same pathology? What does it mean that no functional studies of the variant were performed? Be specific in your responseExplanation / Answer
Answer
Joubert syndrome is a brain disorder in which it halt the process help in normal development that defect in body part. It effects the cerebellar vermis (controls for balance and coordination) and also defect in network system connects the brain and spinal cord.
Compound heterozygous mutation: It is a type of mutation in which only one copy of a gene from pairs of a gene is affected.
Yes in a given case mutation occurred in B9D2 gene line on X chromosome because it is inherited from maternal side and also there is defect in pro74-toser gene lies on Y chromosome inherited from paternal side but both the defect gives Joubert syndrome. functional studies of the variant of a genes were not done this means because only one copy is defected we can isolated both the copy and transformed these copy one by one to analyse the effected generated with normal copy of a gene and mutant copy.
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