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TitelMendeliome in patients with Microphthalmia, Anophthalmia and Coloboma – results and challenge
DoelMicrophthalmia, anophthalmia and coloboma are ocular malformations leading to severe health and social consequences for the life of the affected children. In industrialized countries, ocular malformations are most often of genetic origin. The underlying genetic causes in patients often remain undetermined due to the complexity of these disorders, including high genetic heterogeneity and incomplete penetrance.
MethodesWe performed next generation sequencing of gene panel, Mendeliome, in patients with microphthalmia, anophthalmia and coloboma. Twelve patients with syndromic and nonsyndromic forms of microphthalmia, anophthalmia and coloboma were tested in a trio with their parents.
ResultatenMutations were identified in 5 patients (45%) affecting RAX, PTPN11, MED12, TFAP2A and RBP4 genes. The mutations in – MED12, TFAP2A and RBP4 were novel and were inherited from a normal parent. MED12 mutations underlay the X linked Ohdo syndrome which was inherited from the mother. TFAP2A variant was found in the mildly affected parent. The segregation of the mutation in RBP4 showed uncertain results.
ConclusieOur results show that the etiology of microphthalmia, anophthalmia and coloboma is complex and involves different genetic mechanisms.
BelangenverstrengelingNee
Auteur 1
NaamBALIKOVA
InitialenI
InstituutUniversity Children Hospital Queen Fabiola, Department of Ophthalmology
StadBrussels
Auteur 2
NaamSoblet
InitialenJ
InstituutUniversity Children Hospital Queen Fabiola, Department of Genetics
StadBrussels
Auteur 3
NaamBrachet
InitialenC
InstituutUniversity Children Hospital Queen Fabiola, Department of Endocrinology
StadBrussels
Auteur 4
NaamHeinrichs
InitialenC
InstituutUniversity Children Hospital Queen Fabiola, Department of Endocrinology
StadBrussels
Auteur 5
NaamSmits
InitialenG
InstituutUniversity Children Hospital Queen Fabiola, Department of Genetics
StadBrussels
Auteur 6
NaamVilain
InitialenC
InstituutUniversity Children Hospital Queen Fabiola, Department of Genetics
StadBrussels
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