Román Rossana, López Patricia, Johnson María Cecilia, Boric María Angélica, Gallo Miriam, Ponce Carolina, Vargas Sergio, Codner Ethel, Cassorla Fernando
Institute of Maternal and Child Research, San Borja Arriarán Clinical Hospital, School of Medicine, University of Chile, Santiago, Chile.
Fetal Pediatr Pathol. 2007 Jul-Aug;26(4):199-205. doi: 10.1080/15513810701697005.
GNAS1 gene mutations cause the McCune-Albright syndrome. Some patients may develop unusual, severe, nonendocrine manifestations that may lead to death. We postulate that some cases of sudden infant death syndrome (SIDS) might be caused by GNAS1 gene mutations affecting vital organs. We studied two GNAS1 gene mutations (R201H and R201C) by allele specific PCR and enzymatic digestion in pulmonary, pancreas, liver, kidney, and heart tissue from 29 infants who suffered SIDS. The infants died at age 96 +/- 78 days. At the time of death, children had a height Z score of -0,04 +/- 0,95, a weight Z score of 0,04 +/- 0,91, and a weight for length Z score of 0,1 +/- 0,83. The molecular study by both techniques did not reveal any GNAS1 mutations in the tissues examined. We conclude that GNAS1 gene mutations do not appear to be present in tissues of infants with SIDS.
GNAS1基因突变会导致麦库恩-奥尔布赖特综合征。一些患者可能会出现异常、严重的非内分泌表现，甚至可能导致死亡。我们推测，某些婴儿猝死综合征（SIDS）病例可能是由影响重要器官的GNAS1基因突变引起的。我们通过等位基因特异性PCR和酶切法，对29例死于SIDS的婴儿的肺、胰腺、肝脏、肾脏和心脏组织中的两种GNAS1基因突变（R201H和R201C）进行了研究。这些婴儿死亡时的年龄为96±78天。死亡时，患儿的身高Z值为-0.04±0.95，体重Z值为0.04±0.91，身长体重Z值为0.1±0.83。两种技术的分子研究均未在检测的组织中发现任何GNAS1基因突变。我们得出结论，SIDS婴儿的组织中似乎不存在GNAS1基因突变。
