Identification of gene mutation and prenatal diagnosis in a family with X-linked ichthyosis

X-linked ichthyosis (XLI) is a metabolic disease with steroid sulfatase deficiency and often occurs at birth or shortly after birth. The encoding gene of steroid sulfatase, STS, is located on the short arm of the X chromosome, and STS deletion or mutation can lead to the development of this disease....

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Bibliographic Details
Published in:Zhongguo dang dai er ke za zhi 2016-11, Vol.18 (11), p.1136-1140
Main Authors: Huang, Ji-Wei, Tang, Ning, Li, Wu-Gao, Li, Zhe-Tao, Luo, Shi-Qiang, Li, Jing-Wen, Huang, Jun, Yan, Ti-Zhen
Format: Article
Language:Chinese
Subjects:
Child
Humans
Ichthyosis, X-Linked - diagnosis
Ichthyosis, X-Linked - genetics
Male
Mutation
Polymorphism, Single Nucleotide
Prenatal Diagnosis
Steryl-Sulfatase - genetics
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Summary:X-linked ichthyosis (XLI) is a metabolic disease with steroid sulfatase deficiency and often occurs at birth or shortly after birth. The encoding gene of steroid sulfatase, STS, is located on the short arm of the X chromosome, and STS deletion or mutation can lead to the development of this disease. This study collected the data on the clinical phenotype from a family, and the proband, a boy aged 11 years with full-term vaginal delivery, had dry and rough skin and black-brown scaly patches, mainly in the abdomen and extensor aspect of extremities. Peripheral blood samples were collected from each family member and DNA was extracted. Multiplex ligation-dependent probe amplification (MLPA) was used to measure the copy number of STS on the X chromosome. Whole-genome microarray was used to determine the size of the segment with microdeletion in the X chromosome. MLPA was then used for prenatal diagnosis for the mother of the proband. The results revealed that the proband and another two male patients had hemizygo
ISSN:1008-8830