Hsieh Elena W Y, Vargervik Karin, Slavotinek Anne M
Department of Pediatrics, Division of Genetics, UCSF School of Medicine, San Francisco, California 94143-0748, USA.
Am J Med Genet A. 2008 Sep 15;146A(18):2337-45. doi: 10.1002/ajmg.a.32368.
Opitz G/BBB syndrome is characterized by midline abnormalities such as hypertelorism, cleft palate, and hypospadias. This syndrome is heterogeneous with an X-linked recessive form caused by mutations in the MID1 gene at band Xp22.3. However, mutations in MID1 have only been identified in 47% of familial cases of X-linked Opitz G/BBB syndrome, and 13% of sporadic cases. We performed a phenotype-genotype analysis of a group of nine new patients with clinical characteristics commonly seen in Opitz G/BBB syndrome, and of previously reported patients. We identified a novel mutation in exon 9 of the MID1 gene, c.1941insTGAGTCATCATCC, leading to a premature termination codon at amino acid 514 in a patient with hypertelorism, apparently low-set ears, a short philtrum, bilateral cleft of lip and palate and hypospadias. This mutation affects the PRY domain of the C-terminus of the MID1 protein.
Opitz G/BBB综合征的特征为中线异常，如眼距过宽、腭裂和尿道下裂。该综合征具有异质性，其中X连锁隐性形式由位于Xp22.3带的MID1基因突变引起。然而，仅在47%的X连锁Opitz G/BBB综合征家族病例和13%的散发病例中鉴定出MID1基因突变。我们对一组9例具有Opitz G/BBB综合征常见临床特征的新患者以及先前报道的患者进行了表型-基因型分析。我们在一名眼距过宽、明显低位耳、人中短、双侧唇腭裂和尿道下裂的患者中，在MID1基因第9外显子中鉴定出一个新的突变，即c.1941insTGAGTCATCATCC，该突变导致第514位氨基酸处出现过早终止密码子。此突变影响MID1蛋白C末端的PRY结构域。
