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TitreMendeliome in patients with Microphthalmia, Anophthalmia and Coloboma – results and challenge
ButMicrophthalmia, 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.
MéthodesWe 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.
RésultatsMutations 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.
ConclusionOur results show that the etiology of microphthalmia, anophthalmia and coloboma is complex and involves different genetic mechanisms.
Conflit d'intérêtNon
Auteur 1
NomBALIKOVA
InitialesI
InstitutUniversity Children Hospital Queen Fabiola, Department of Ophthalmology
VilleBrussels
Auteur 2
NomSoblet
InitialesJ
InstitutUniversity Children Hospital Queen Fabiola, Department of Genetics
VilleBrussels
Auteur 3
NomBrachet
InitialesC
InstitutUniversity Children Hospital Queen Fabiola, Department of Endocrinology
VilleBrussels
Auteur 4
NomHeinrichs
InitialesC
InstitutUniversity Children Hospital Queen Fabiola, Department of Endocrinology
VilleBrussels
Auteur 5
NomSmits
InitialesG
InstitutUniversity Children Hospital Queen Fabiola, Department of Genetics
VilleBrussels
Auteur 6
NomVilain
InitialesC
InstitutUniversity Children Hospital Queen Fabiola, Department of Genetics
VilleBrussels
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