Phenotypic variability in 4 homozygous familial hypercholesterolemia siblings compound heterozygous for LDLR mutations
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- 作者：Claudio Rabacchi ; PhDa ; Federico Bigazzi ; PhDb ; Mariarita Puntoni ; PhDb ; Francesco Sbrana ; MDb ; Tiziana Sampietro ; MDb ; Patrizia Tarugi ; PhDa ; Stefano Bertolini ; MDc ; stefbert@unige.it" class="auth_mail" title="E-mail the corresponding author ; Sebastiano Calandra ; MDd ; sebcal@unimore.it" class="auth_mail" title="E-mail the corresponding author
- 关键词：Homozygous familial hypercholesterolemia ; LDL cholesterol ; LDLR gene ; APOB gene ; Missense mutations ; In-frame deletion
- 刊名：Journal of Clinical Lipidology
- 出版年：2016
- 出版时间：July-August 2016
- 年：2016
- 卷：10
- 期：4
- 页码：944-952.e1
- 全文大小：1445 K
文摘
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Four FH siblings were found to be compound heterozygotes for 2 LDLR mutations.
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They carried a known missense mutation and a minute deletion in exon 8/intron 8 junction.
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The deletion causes an in-frame deletion of 17 amino acids in the LDLR protein.
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Two siblings with a less severe phenotype were carriers of a rare missense apoB variant.
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This rare missense apoB variant may have an LDL-lowering effect.