Mutation analysis of B3GALTL in Peters Plus syndrome.
Mutation analysis of B3GALTL in Peters Plus syndrome.
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DOI：
10.1002/ajmg.a.32498
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发表时间：
2008-10-15
影响因子：
2
通讯作者：
Semina, Elena V.
中科院分区：
文献类型：
--
作者：
Reis, Linda M.;Tyler, Rebecca C.;Abdul-Rahman, Omar;Trapane, Pamela;Wallerstein, Robert;Broome, Diane;Hoffman, Jodi;Khan, Aneal;Paradiso, Christina;Ron, Nitin;Bergner, Amanda;Semina, Elena V.
关键词：
彼得斯综合征包括眼前段发育不全(最常见的彼得斯畸形)、身材矮小、手畸形、面部特征独特，以及通常其他额外的缺陷，并以常染色体-隐性遗传模式遗传。β1，3-葡萄糖基转移酶基因(B3GALTL)突变最近在20例彼得斯-Plus综合征患者中被报道。在我们的研究中，B3GALTL在四名典型的彼得斯加综合征患者和四名与该疾病表型重叠的患者中进行了检测。在所有四名典型的彼得斯加综合征患者中都发现了B3GALTL的突变，而在其余四名患者中没有发现突变，这些突变表现出了该综合征的一些特征，但不是全部。先前报道的常见突变，c.660+1G>；A，占我们彼得斯加综合征人群突变等位基因的75%。此外，还发现了两个新的突变等位基因c.459+1G>；A和c.230insT。这些数据证实了B3GALTL在导致典型的Peters Plus综合征中的重要作用，并表明该基因可能与涉及Peter‘s畸形的综合征病例无关，但缺乏这种复杂疾病的其他经典特征。
Peters Plus syndrome comprises ocular anterior segment dysgenesis (most commonly Peters anomaly), short stature, hand anomalies, distinctive facial features, and often other additional defects and is inherited in an autosomal-recessive pattern. Mutations in the β1,3-glucosyltransferase gene (B3GALTL) were recently reported in 20 out of 20 patients with Peters Plus syndrome. In our study, B3GALTL was examined in four patients with typical Peters Plus syndrome and four patients that demonstrated a phenotypic overlap with this condition. Mutations in B3GALTL were identified in all four patients with typical Peters Plus syndrome, while no mutations were found in the remaining four patients that demonstrated some but not all characteristic features of the syndrome. The previously reported common mutation, c.660+1G>A, accounted for 75% of the mutant alleles in our Peters Plus syndrome population. In addition, two new mutant alleles, c.459+1G>A and c.230insT, were identified and predicted to result in truncated protein products. These data confirm an important role for B3GALTL in causing typical Peters Plus syndrome, and suggest that this gene may not be implicated in syndromic cases that involve Peters’ anomaly but lack other classic features of this complex condition.
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影响因子：
4.8
作者：
Hess, Daniel;Keusch, Jeremy J.;Hofsteenge, Jan
通讯作者：
Hofsteenge, Jan
影响因子：
4.3
作者：
Sato, Takashi;Sato, Maiko;Narimatsu, Hisashi
通讯作者：
Narimatsu, Hisashi
影响因子：
7.1
作者：
Boog, G;Le Vaillant, C;Joubert, M
通讯作者：
Joubert, M
DOI：
10.1002/ajmg.1320400107
发表时间：
1991-07-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
FRYDMAN, M;WEINSTOCK, AL;VARSANO, I
通讯作者：
VARSANO, I
DOI：
10.3109/13816819209087614
发表时间：
1992-06-01
期刊：
OPHTHALMIC PAEDIATRICS AND GENETICS
影响因子：
--
作者：
HEON, E;BARSOUMHOMSY, M;MUSARELLA, MA
通讯作者：
MUSARELLA, MA