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PubMed:18385794 JSONTXT 29 Projects

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Id Subject Object Predicate Lexical cue
T1 0-129 Sentence denotes Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.
T2 130-138 Sentence denotes PURPOSE:
T3 139-248 Sentence denotes Mutations in the SOX2 and CHX10 genes have been reported in patients with anophthalmia and/or microphthalmia.
T4 249-414 Sentence denotes In this study, we evaluated 34 anophthalmic/microphthalmic patient DNA samples (two sets of siblings included) for mutations and sequence variants in SOX2 and CHX10.
T5 415-423 Sentence denotes METHODS:
T6 424-633 Sentence denotes Conformational sensitive gel electrophoresis (CSGE) was used for the initial SOX2 and CHX10 screening of 34 affected individuals (two sets of siblings), five unaffected family members, and 80 healthy controls.
T7 634-712 Sentence denotes Patient samples containing heteroduplexes were selected for sequence analysis.
T8 713-813 Sentence denotes Base pair changes in SOX2 and CHX10 were confirmed by sequencing bidirectionally in patient samples.
T9 814-822 Sentence denotes RESULTS:
T10 823-933 Sentence denotes Two novel heterozygous mutations and two sequence variants (one known) in SOX2 were identified in this cohort.
T11 934-956 Sentence denotes Mutation c.310 G>T (p.
T12 957-1125 Sentence denotes Glu104X), found in one patient, was in the region encoding the high mobility group (HMG) DNA-binding domain and resulted in a change from glutamic acid to a stop codon.
T13 1126-1225 Sentence denotes The second mutation, noted in two affected siblings, was a single nucleotide deletion c.549delC (p.
T14 1226-1363 Sentence denotes Pro184ArgfsX19) in the region encoding the activation domain, resulting in a frameshift and premature termination of the coding sequence.
T15 1364-1430 Sentence denotes The shortened protein products may result in the loss of function.
T16 1431-1546 Sentence denotes In addition, a novel nucleotide substitution c.*557G>A was identified in the 3'-untranslated region in one patient.
T17 1547-1636 Sentence denotes The relationship between the nucleotide change and the protein function is indeterminate.
T18 1637-1748 Sentence denotes A known single nucleotide polymorphism (c. *469 C>A, SNP rs11915160) was also detected in 2 of the 34 patients.
T19 1749-1866 Sentence denotes Screening of CHX10 identified two synonymous sequence variants, c.471 C>T (p.Ser157Ser, rs35435463) and c.579 G>A (p.
T20 1867-1944 Sentence denotes Gln193Gln, novel SNP), and one non-synonymous sequence variant, c.871 G>A (p.
T21 1945-1967 Sentence denotes Asp291Asn, novel SNP).
T22 1968-2063 Sentence denotes The non-synonymous polymorphism was also present in healthy controls, suggesting non-causality.
T23 2064-2076 Sentence denotes CONCLUSIONS:
T24 2077-2138 Sentence denotes These results support the role of SOX2 in ocular development.
T25 2139-2196 Sentence denotes Loss of SOX2 function results in severe eye malformation.
T26 2197-2277 Sentence denotes CHX10 was not implicated with microphthalmia/anophthalmia in our patient cohort.