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Region Hovedstaden - en del af Københavns Universitetshospital
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Targeted Gene Sequencing and Whole-Exome Sequencing in Autopsied Fetuses with Prenatally Diagnosed Kidney Anomalies

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

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  3. Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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Identification of fetal kidney anomalies invites questions about underlying causes and recurrence risk in future pregnancies. We therefore investigated the diagnostic yield of next-generation sequencing in fetuses with bilateral kidney anomalies and the correlation between disrupted genes and fetal phenotypes. Fetuses with bilateral kidney anomalies were screened using an in-house-designed kidney-gene panel. In families where candidate variants were not identified, whole-exome sequencing was performed. Genes uncovered by this analysis were added to our kidney-panel. We identified likely deleterious variants in 11 of 56 (20%) families. The kidney-gene analysis revealed likely deleterious variants in known kidney developmental genes in six fetuses and TMEM67 variants in two unrelated fetuses. Kidney histology was similar in the latter two fetuses - presenting a distinct prenatal form of nephronophthisis. Exome sequencing identified ROBO1 variants in one family and a GREB1L variant in another family. GREB1L and ROBO1 were added to our kidney-gene panel and additional variants were identified. Next-generation sequencing substantially contributes to identifying causes of fetal kidney anomalies. Genetic causes may be supported by histological examination of the kidneys. This is the first time that SLIT-ROBO signaling is implicated in human bilateral kidney agenesis.

OriginalsprogEngelsk
TidsskriftClinical Genetics
Vol/bind93
Udgave nummer4
Sider (fra-til)860-69
ISSN0009-9163
DOI
StatusUdgivet - 2018

ID: 52581100