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- W2897112103 abstract "Neonatal and prenatal imaging studies suggested that agenesis of corpus callosum (AgCC) occurs in at least 1:4000 live births. It's broad range of diagnoses and high genome heterogeneity reflect the fundamental complexity of callosal development. Besides chromosomal anomalies, single-gene Mendelian/sporadic mutations and complex genetics also have a role in etiology of AgCC. The objective of this study is to analyse the whole spectrum of genomic variations in fetuses diagnosed with AgCC by prenatal ultrasound and MRI, and to uncover the association between patterns of image features and genomic features. A cohort of fetuses with prenatal imaging features of AgCC and availability of tissues or amniotic fluid were subject to whole-genome sequencing (WGS) to identify chromosomal anomalies, microduplication/deletions (CNVs) and single-gene Mendelian/sporadic mutations. A series of 24 AgCC fetuses is reported. 7 cases have chromosome anomalies including one 45XO, two 18-trisomy, one 13-trisomy and three large chromosome rearrangements. One case was found to have a pathogenic 3.1Mb microduplication on 22q11. Deep WGS on the rest 16 cases identified likely pathogenic mutations in KAT6B, FGFR3 and OFD1 in 4 cases. WGS achieved a diagnostic yield of 50% in the series. Besides, missense mutations in well-established genes involved in fetal development such as RERE, GAS1, NOTCH3, MYH3, CDON have been found in other cases. However, for cases that revealed only features of AgCC without other associated malformation, it is even harder to screening for candidate mutations underlying AgCC. Detailed imaging examinations indicating specific feature patterns is extremely helpful in interpreting the clinical significance of CNVs and mutations identified by WGS in fetal anomalies involving AgCC. An algorithm based on imaging feature-genotype is promising if more samples are available to be deeply sequenced. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article." @default.
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- W2897112103 date "2018-10-01" @default.
- W2897112103 modified "2023-10-16" @default.
- W2897112103 title "OP06.05: The usefulness of prenatal imaging features in discovering pathogenic genomic variations in fetal agenesis of corpus callosum" @default.
- W2897112103 doi "https://doi.org/10.1002/uog.19438" @default.
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