Identification of the first multi-exonic WDR72 deletion in isolated amelogenesis imperfecta, and generation of a WDR72-specific copy number screening tool
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- 作者：Julia Hentschela ; b ; Dana Tatunc ; Dmitri Parkhomchukc ; Ingo Kurtha ; Bettina Schimmela ; Roswitha Heinrich-Weltziend ; Sabine Bertzbache ; Hartmut Petersc ; f ; 1 ; Christian Beetzg ; 1 ; christian.beetz@med.uni-jena.de" class="auth_mail" title="E-mail the corresponding author
- 关键词：AI ; amelogenesis imperfect ; DNA ; desoxyribonucleic acid ; MLPA ; multiplex ligation-dependent probe amplification ; PCR ; polymerase chain reaction ; SNP ; single nucleotide polymorphism ; UCSC ; University of California Santa Cruz ; WDR72 ; WD REPEAT-CONTAINING PROTEIN 72
- 刊名：Gene
- 出版年：2016
- 出版时间：15 September 2016
- 年：2016
- 卷：590
- 期：1
- 页码：1-4
- 全文大小：714 K
文摘
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A large family with recessively inherited amylogenesis imperfecta was investigated.
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Three patients are clinically described in detail.
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The first multi-exonic deletion in WDR72 was identified as the causative mutation.
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A WDR72-specific multiplex ligation-dependent probe amplification kit was developed.
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This tool facilitates the screening for deletions and duplications in WDR72.