Concomitant partial exon skipping by a unique missense mutation of RPS6KA3 causes Coffin-Lowry syndrome
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- 作者：Jonathan D.J. Labonnea ; b ; Min Ji Chunga ; c ; Julie R. Jonesd ; Priya Anande ; Wolfgang Wenzele ; Daniela Iacobonif ; Lawrence C. Laymana ; b ; g ; Hyung-Goo Kima ; b ; hkim@gru.edu" class="auth_mail" title="E-mail the corresponding author
- 关键词：CLS ; Coffin&ndash ; Lowry syndrome ; RPS6KA3 ; Ribosomal Protein S6 Kinase Polypeptide 3 ; RSK2 ; ribosomal S6 kinase 2 ; RT-PCR ; reverse transcription polymerase chain reaction ; cDNA ; complementary DNA ; ATP ; adenosine triphosphate ; ERK ; extracellular regulated kinase ; ATF4 ; activating transcription factor 4 ; snRNPs ; small nuclear ribonucleoproteins ; CCA ; congenital contractural arachnodactyly ; MNK ; Menkes disease ; PKLR ; pyruvate kinase ; liver and red blood cell ; BRCA1 ; breast cancer gene 1 ; DGDP ; deve
- 刊名：Gene
- 出版年：2016
- 出版时间：1 January 2016
- 年：2016
- 卷：575
- 期：1
- 页码：42-47
- 全文大小：869 K
文摘
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A patient with Coffin–Lowry syndrome having a novel RPS6KA3 missense mutation.
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The first exonic mutation causing exon 8 skipping of RPS6KA3.
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A carrier mother with a hemizygous mutation had only wildtype transcripts.
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Mother with moderately skewed X-inactivation consistent with her mild phenotype.
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The mutation in the ATP binding pocket alters protein function.