A MID1 Gene Mutation in a Patient With Opitz G/BBB Syndrome That Altered the 3D Structure of SPRY Domain

作者：Hu Ching Hsuan; Liu Yu Fan; Yu Ju Shan; Ng Yan Yan; Chen Suh Jen; Su Pen Hua^*; Chen Jia Yuh

来源：American Journal of Medical Genetics, Part A, 2012, 158A(4): 726-731.

DOI：10.1002/ajmg.a.35216

• Opitz G/BBB syndrome
• congenital disorders
• MID1 gene
• point mutation

Mutations in the MID1 gene result in X-linked Opitz G/BBB syndrome (OS), a disorder that affects development of midline structures and comprises hypertelorism, cleft lip/palate, hypospadias, and laryngo-tracheo-esophageal abnormalities, and, at times, neurological, anal, and cardiac defects. MID1 gene abnormalities include missense, nonsense, and splicing mutations, small insertions, small deletions, and complex rearrangements. Here, we present a patient with Opitz G/BBB syndrome and a unique MID1 gene point mutation c.1703T%26lt;C (p.Ile568Thr) in exon 10. This mutation was located in the loop between beta 5 and beta 6 beta pleated sheets in the SPRY domain. According to our 3D models based on the PRY-SPRY domain of the human TRIM72, the I568T mutation altered the conformation in the loops between beta 5 and beta 6 and between beta 7 and beta 8. Thus, the I568T mutation altered the conformation of surface B of the binding pocket and may affect the binding affinity to the PRY domain.

• 出版日期2012-4