Opitz G/BBB syndrome (OS) is a genetically heterogeneous disease. We report on an OS patient with a novel inherited mutation in MID1. Metaphase analysis showed a normal male karyotype. Array CGH revealed a maternally inherited duplication at Xp22.31 (6,467,203-7,992,261, hg18), the size was estimated to 1.5Mb. Sequence analysis of the MID1 coding region revealed a novel missense mutation in exon 8 (c.1561C>T/p. R521C) which resulted in an ammonia acid substitution (R521C) in the PRX domain of the MID1 protein. The mutation was inherited from unaffected grandmother and mildly affected mother. Prenatal diagnosis was performed for the third pregnancy after identification of the causative mutation in the family. The third fetus was found to be a female carrier. Postnatal follow-up at 2-month-old showed normal phenotype. In conclusion, we reported a familial OS patient with a novel mutation in exon 8 which provided another evidence for that mutation clustered in C-terminal domain of MID1. The newly identified mutation in our patient expands mutation spectrum in MID1 gene.
Keywords: ADM-2; AFP; Aberration Detection Method 2; Array CGH; Array Comparative Genomic Hybridization; FNIII; HGMD; Human Gene Mutation Database; MID1; OS; Opitz G/BBB syndrome; Point mutation; alpha-fetoprotein; fibronectin type III.
Copyright © 2013 Elsevier B.V. All rights reserved.