Phenotypic variability in a Tunisian family with X-linked adrenoleukodystrophy caused by the p.Gln316Pro novel mutation
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- 作者：Fakhri Kallabia ; fakhrikallabi@yahoo.fr" class="auth_mail" title="E-mail the corresponding author ; Emna Ellouzb ; Mouna Tabebia ; Ghada Ben Salahc ; Naziha Kaabechid ; Leila Keskesa ; Chahnez Trikib ; Hassen Kamouna ; e ; hassen.kamoun@yahoo.fr" class="auth_mail" title="E-mail the corresponding author
- 关键词：ABCD1 gene ; Addison disease ; Childhood cerebral ALD ; Novel mutation ; Phenotypic variability ; VLCFA ; X-linked adrenoleukodystrophy
- 刊名：Clinica Chimica Acta
- 出版年：2016
- 出版时间：30 January 2016
- 年：2016
- 卷：453
- 期：Complete
- 页码：141-146
- 全文大小：938 K
文摘
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We identify a novel mutation c.947A > C in the ABCD1 gene in the two siblings.
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We demonstrate the phenotypic variability between two siblings in one family.
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Using Polyphen and SIFT software we demonstrate that new mutation is damaging.
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We performed a PCR-RFLP to identify healthy, homozygous and heterozygous individuals for this mutation.