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Identification of two de novo mutations in Chinese patients with X-linked adrenoleukodystrophy by Zhihong Wang; Longfeng Ke; Aizhen Yan; Zhongyong Zhu; Fenghua Lan is a Medicine article available to read on EtoBox.

What is Identification of two de novo mutations in Chinese patients with X-linked adrenoleukodystrophy about?

## Background: Mutations in the abcd1 gene lead to x-linked adrenoleukodystrophy, a neurodegenerative disorder. hundreds of hereditary mutations of the gene have been reported in patients with x-linked adrenoleukodystrophy, but there have been no reports of de novo mutations. ## Methods: The coding region of abcd1 cdna of two patients was amplified and sequenced. to confirm the mutations in the abcd1 gene of the patients and screen for mutations in their family members, the genomic dna was analyzed by direct sequencing and denaturing high performance liquid chromatography. ## Results: Two missense mutations (c631y and g512s) were identified in the probands, but the mutations were not found in their parents. tests for paternity identification excluded the possibility of misparentage. ## Conclusions: The mutations identified in the two male patients were de novo mutations. mutation analysis of parents of the proband may be helpful for pregnancy planning and evaluation of the recurrence risk to siblings of the proband.

Who reads Identification of two de novo mutations in Chinese patients with X-linked adrenoleukodystrophy?

Author

Zhihong Wang; Longfeng Ke; Aizhen Yan; Zhongyong Zhu; Fenghua Lan

Publisher

Walter de Gruyter GmbH

Published

2008

Language

EN

Field

Medicine (Health Sciences)