Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma ( MAC ) from a consanguineous population
نویسندگان
چکیده
منابع مشابه
National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology.
We report an epidemiological and genetic study attempting complete ascertainment of subjects with microphthalmia, anophthalmia, and coloboma (MAC) born in Scotland during a 16 year period beginning on 1 January 1981. A total of 198 cases were confirmed giving a minimum live birth prevalence of 19 per 100 000. One hundred and twenty-two MAC cases (61.6%) from 115 different families were clinical...
متن کاملAbsence of SIX6 mutations in microphthalmia, anophthalmia, and coloboma.
PURPOSE To investigate whether 173 patients with microphthalmia, anophthalmia, and coloboma have mutations in the eye-development gene SIX6. METHODS The two exons of the SIX6 gene were amplified by PCR from patients' genomic DNA and directly sequenced to search for mutations. The PCR products of 75 patients were also analyzed by denaturing high-performance liquid chromatography (DHPLC). RES...
متن کاملSequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma
PURPOSE Microphthalmia, anophthalmia, and coloboma are ocular malformations with a significant genetic component. Rx is a homeobox gene expressed early in the developing retina and is important in retinal cell fate specification as well as stem cell proliferation. We screened a group of 24 patients with microphthalmia, coloboma, and/or anophthalmia for RX mutations. METHODS We used standard P...
متن کاملstudy of systemic malformations and chromosomal anomalies among patients with anophthalmia, microphthalmia and coloboma
purpose: to assess the frequency and type of associated malformations and chromosomal anomalies among patients with anophthalmia, microphthalmia, and coloboma in sistan and baluchestan province. methods: patients with a clinical diagnosis of anophthalmia, microphthalmia, or coloboma were examined to find any anomaly in craniofacial, muscle-skeletal, cardiac, neurologic and urogenital systems. a...
متن کاملPanel‐based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns
BACKGROUND Microphthalmia and anophthalmia (MA) are congenital eye abnormalities that show an extremely high clinical and genetic complexity. In this study, we evaluated the implementation of whole exome sequencing (WES) for the genetic analysis of MA patients. This approach was used to investigate three unrelated families in which previous single-gene analyses failed to identify the molecular ...
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ژورنال
عنوان ژورنال: Clinical Genetics
سال: 2020
ISSN: 0009-9163,1399-0004
DOI: 10.1111/cge.13830