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Title

Mendeliome in patients with Microphthalmia, Anophthalmia and Coloboma – results and challenge

Purpose	Microphthalmia, 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.
Methods	We 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.
Results	Mutations 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.
Conclusion	Our results show that the etiology of microphthalmia, anophthalmia and coloboma is complex and involves different genetic mechanisms.
Conflict of interest	No

Authors 1

Last name	BALIKOVA
Initials	I
Department	University Children Hospital Queen Fabiola, Department of Ophthalmology
City	Brussels

Authors 2

Last name	Soblet
Initials	J
Department	University Children Hospital Queen Fabiola, Department of Genetics
City	Brussels

Authors 3

Last name	Brachet
Initials	C
Department	University Children Hospital Queen Fabiola, Department of Endocrinology
City	Brussels

Authors 4

Last name	Heinrichs
Initials	C
Department	University Children Hospital Queen Fabiola, Department of Endocrinology
City	Brussels

Authors 5

Last name	Smits
Initials	G
Department	University Children Hospital Queen Fabiola, Department of Genetics
City	Brussels

Authors 6

Last name	Vilain
Initials	C
Department	University Children Hospital Queen Fabiola, Department of Genetics
City	Brussels