A novel mutation in MID1 in a patient with X-linked Opitz G/BBB syndrome

作者：Ji, Xing; Xing, Ya; Xu, Yan; Liu, Yu; Chen, Yingwei; Tao, Jiong; Xiao, Bing^*

来源：Gene, 2014, 537(1): 140-142.

DOI：10.1016/j.gene.2013.12.018

• Opitz G/BBB syndrome
• MID1
• Point mutation

Opitz G/BBB syndrome (OS) is a genetically heterogeneous disease. We report on an OS patient with a novel inherited mutation in MIDI. 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 1.5 Mb. Sequence analysis of the MIDI 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 MIDI 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 MIDI. The newly identified mutation in our patient expands mutation spectrum in MIDI gene.

• 出版日期2014-3-1
• 单位上海交通大学