| Popis: |
B. Uyanik, S. Canbek; Medical Genetics, Bakirkoy Dr Dadi Konuk Research and Education Hospital,Istanbul, Turkey, Clinical Genetics, Umraniye Research and Training Hospital,Istanbul, Turkey.Disclosures B. Uyanik: None.AbstractThere are two siblings birth fromfirst cousin consanguineous marriage(G2P2).The male one is 3 years old and suers from mild to moderaterecurrent bleeding events since infant period. Laboratory studies concordantwith abrinojenemia. The female one is 1,5 years old and suers fromcongenital hypotonia, motor and mental retardation. Brain MRI shows serebralatrophy, periventricular white matter T2A-FLAIR hyperintensities suggestingthat neuromethabolic disease.With illumina Nextseq sequencer,Sophiagenetics Clinical exome solution v2 and Sophia DDM bioinformaticssoftware the male one has FGB gene NM_001184741 c.685G>A p.(Gly229Ser)rs769036186 homozygous VUS mutation. Varsome platform predict as VUS(https://varsome.com/variant/hg19/NM_001184741%20c.685G%3EA). Familysegregation analysis show parents and sister has heterozygous mutation.Thefemale one has PPT1 gene NM_000310 c.722C>T p.(Ser241Leu) rs746043871homozygous VUS mutation. Varsome platform predict as likely pathojenic(https://varsome.com/variant/hg19/NM_000310%20c.722C%3ET). Familysegregation analysis show parents and brother has heterozygousmutation.This abstract shows exome sequencing is effective method for raredisease diagnosis and It should not be forgotten sometimes there is morethan one disease in one family. |
