Identification of a novel CRYGC mutation in a pedigree affected with congenital cataracts / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with congenital cataracts.@*METHODS@#Clinical data and peripheral blood samples were collected for the pedigree. Following extraction of genomic DNA, whole exome sequencing was carried out to detect genetic variants. Candidate variants were verified by familial co-segregation analysis and Sanger sequencing. Bioinformatics analysis was carried out to predict the function of mutant genes.@*RESULTS@#By comparing variants identified among affected and unaffected individuals, a heterozygous variant, c.110 G>C (p.R37P), was identified in exon 2 of the CRYGC gene among all patients, which also matched the criteria for potential disease-causing mutations. The result was confirmed by Sanger sequencing.@*CONCLUSION@#The c.110G>C variant of the CRYGC gene probably underlay the congenital cataracts in this pedigree.

Identification of a novel SLC26A4 mutation in a child with enlarge vestibular aqueduct syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze mutations of SLC26A4 gene and explore their origins for a patient with enlarge vestibuar aqueduct syndrome.</p><p><b>METHODS</b>Clinical data and peripheral venous blood samples were collected from the patient and her parents. Genome DNA was extracted from the peripheral blood. All of the 21 exons of the SLC26A4 gene were amplified with PCR and subjected to directly sequencing.</p><p><b>RESULTS</b>The patient was found to have carried two mutant alleles of the SLC26A4 gene, namely c.1522A to G and c.1229C to T, which were inherited from her father and mother, respectively.</p><p><b>CONCLUSION</b>SLC26A4 c.1522A to G is likely to be a pathogenic mutation. Above results may facilitate genetic counseling and prenatal diagnosis for this family.</p>