Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration.
Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration.
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DOI：
10.1002/ajmg.a.32682
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发表时间：
2009-03
影响因子：
2
通讯作者：
Slavotinek, A. M.
中科院分区：
文献类型：
--
作者：
West, B.;Bove, K. E.;Slavotinek, A. M.
Anophthalmia/microphthalmia and diaphragmatic defects are a rare but recognized phenotypic combination [Steiner et al., 2002]. These two malformations have been described together with pulmonary agenesis in the Matthew-Wood syndrome [MWS; OMIM 601186; Berkenstadt et al., 1999]. Pulmonary hypoplasia/agenesis, Diaphragmatic hernia/eventration, Anophthalmia/microphthalmia, and Cardiac defects, or PDAC syndrome, overlaps with MWS [for selected recent reports, see Ceylaner et al., 2006; Li et al., 2006; Chitayat et al., 2007; Martinovic-Bouriel et al., 2007]. Recently mutations in the STRA6 gene were identified in a phenotype that overlaps with both MWS and PDAC [Golzio et al., 2007; Pasutto et al., 2007], with clinical features of affected families comprising pulmonary agenesis, diaphragmatic defects, anophthalmia or severe microphthalmia, cardiac defects, pancreatic malformations and intrauterine growth retardation. The STRA6 gene mutations were first identified in two large consanguineous families using a positional cloning approach, and absence of the Stra6 protein on a Western blot from one child who had a homozygous frameshift mutation, was demonstrated [Pasutto et al., 2007]. In a further 13 unrelated individuals with eye, diaphragm, heart or lung malformations, four different missense mutations in STRA6 were identified that were predicted either to affect the structure of the loops connecting the transmembrane domains, alter the SH2 domain binding motif, or occur at a site that could compromise downstream signal transduction [Pasutto et al., 2007]. Following a second paper reporting two homozygous frameshift mutations [Golzio et al., 2007], a total of eight different frameshift or missense mutations in STRA6 have now been reported in eight individuals. However there is evidence for genetic heterogeneity, as some patients with similar phenotypes have been negative for STRA6 mutations [Table I; Golzio et al., 2007; Pasutto et al., 2007], and mutational analysis of the original patients reported as having MWS has not been published. Interestingly, missense mutations have been associated with a more severe phenotype than the two truncating frameshift mutations [Pasutto et al., 2007]. We report on the detection of two novel STRA6 mutations in a male fetus with anophthalmia and diaphragmatic eventration to add to the phenotype-genotype data on these intriguing conditions.
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影响因子：
2
作者：
Li, Lin;Wei, Jueyang
通讯作者：
Wei, Jueyang
影响因子：
2
作者：
Chitayat, David;Sroka, Hana;Bitoun, Pierre
通讯作者：
Bitoun, Pierre
影响因子：
9.8
作者：
Pasutto, Francesca;Sticht, Heinrich;Rauch, Anita
通讯作者：
Rauch, Anita
影响因子：
9.8
作者：
Golzio, Christelle;Martinovic-Bouriel, Jelena;Etchevers, Heather C.
通讯作者：
Etchevers, Heather C.
影响因子：
2
作者：
Martinovic-Bouriel, Jelena;Bernabe-Dupont, Celine;Benachi, Alexandra
通讯作者：
Benachi, Alexandra