FOXE3plays a significant role in autosomal recessive microphthalmia
نویسندگان
چکیده
منابع مشابه
VSX2 mutations in autosomal recessive microphthalmia
PURPOSE To further explore the spectrum of mutations in the Visual System Homeobox 2 (VSX2/CHX10) gene previously found to be associated with autosomal recessive microphthalmia. METHODS We screened 95 probands with syndromic or isolated developmental ocular conditions (including 55 with anophthalmia/microphthalmia) for mutations in VSX2. RESULTS Homozygous mutations in VSX2 were identified ...
متن کاملA homozygous mutation in a consanguineous family consolidates the role of ALDH1A3 in autosomal recessive microphthalmia.
Anomalies of eye development can lead to the rare eye malformations microphthalmia and anophthalmia (small or absent ocular globes), which are genetically very heterogeneous. Several genes have been associated with microphthalmia and anophthalmia, and exome sequencing has contributed to the identification of new genes. Very recently, homozygous variations within ALDH1A3 have been associated wit...
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BACKGROUND Congenital microphthalmia (OMIM: 309700) may occur in isolation or in association with a variety of systemic malformations. Isolated microphthalmia may be inherited as an autosomal dominant, an autosomal recessive, or an X linked trait. METHODS Based on a whole genome linkage analysis, in a six generation consanguineous family with autosomal recessive inheritance, the first locus f...
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We report on three sibs born to healthy parents, one livebirth and two terminated pregnancies, presenting with a malformation complex characterised by conotruncal heart defect (CTHD), microphthalmia, genital anomalies, and facial dysmorphism. The recurrence of the association of CTHD, particularly truncus arteriosus, and microphthalmia in sibs has previously been reported in rare instances, but...
متن کاملA Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia
Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. More than 120 mutations have been found in this gene. The main feature of this disorder is muscle membrane hyperexcitability. Here, we report a 59-year male patient suffering from congenital myotonia. He had transient generalized myotonia, which...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2010
ISSN: 1552-4825,1552-4833
DOI: 10.1002/ajmg.a.33257