Genetic analysis for a child with comorbid X-linked ichthyosis and Duchenne muscular dystrophy

Chuan Zhang; Shengjun Hao; Ling Hui; Xuan Feng; Xue Chen; Xing Wang; Lei Zheng; Furong Liu; Bingbo Zhou; Qinghua Zhang

doi:10.3760/cma.j.cn511374-20210025-00163

Genetic analysis for a child with comorbid X-linked ichthyosis and Duchenne muscular dystrophy

Chuan Zhang, Shengjun Hao, Ling Hui, Xuan Feng, Xue Chen, Xing Wang, Lei Zheng, Furong Liu, Bingbo Zhou, Qinghua Zhang

School of Astronautics

Gansu Provincial Maternity and Child-care Hospital

Research output: Contribution to journal › Article › peer-review

Abstract

OBJECTIVE: To carry out pedigree analysis for a rare child with comorbid X-linked ichthyosis (XLI) and Duchenne muscular dystrophy (DMD). METHODS: Whole exome sequencing (WES) and multiple ligation-dependent probe amplification (MLPA) were used to detect potential deletions in the STS and DMD genes. RESULTS: The proband was found to harbor hemizygous deletion of the STS gene and exons 48 to 54 of the DMD gene. CONCLUSION: The child has comorbid XLI and DMD, which is extremely rare.

Original language	English
Pages (from-to)	877-880
Number of pages	4
Journal	Chinese Journal of Medical Genetics
Volume	39
Issue number	8
DOIs	https://doi.org/10.3760/cma.j.cn511374-20210025-00163
State	Published - 10 Aug 2022

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title = "Genetic analysis for a child with comorbid X-linked ichthyosis and Duchenne muscular dystrophy",

abstract = "OBJECTIVE: To carry out pedigree analysis for a rare child with comorbid X-linked ichthyosis (XLI) and Duchenne muscular dystrophy (DMD). METHODS: Whole exome sequencing (WES) and multiple ligation-dependent probe amplification (MLPA) were used to detect potential deletions in the STS and DMD genes. RESULTS: The proband was found to harbor hemizygous deletion of the STS gene and exons 48 to 54 of the DMD gene. CONCLUSION: The child has comorbid XLI and DMD, which is extremely rare.",

author = "Chuan Zhang and Shengjun Hao and Ling Hui and Xuan Feng and Xue Chen and Xing Wang and Lei Zheng and Furong Liu and Bingbo Zhou and Qinghua Zhang",

year = "2022",

month = aug,

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doi = "10.3760/cma.j.cn511374-20210025-00163",

language = "英语",

volume = "39",

pages = "877--880",

journal = "Chinese Journal of Medical Genetics",

issn = "1003-9406",

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TY - JOUR

T1 - Genetic analysis for a child with comorbid X-linked ichthyosis and Duchenne muscular dystrophy

AU - Zhang, Chuan

AU - Hao, Shengjun

AU - Hui, Ling

AU - Feng, Xuan

AU - Chen, Xue

AU - Wang, Xing

AU - Zheng, Lei

AU - Liu, Furong

AU - Zhou, Bingbo

AU - Zhang, Qinghua

PY - 2022/8/10

Y1 - 2022/8/10

N2 - OBJECTIVE: To carry out pedigree analysis for a rare child with comorbid X-linked ichthyosis (XLI) and Duchenne muscular dystrophy (DMD). METHODS: Whole exome sequencing (WES) and multiple ligation-dependent probe amplification (MLPA) were used to detect potential deletions in the STS and DMD genes. RESULTS: The proband was found to harbor hemizygous deletion of the STS gene and exons 48 to 54 of the DMD gene. CONCLUSION: The child has comorbid XLI and DMD, which is extremely rare.

AB - OBJECTIVE: To carry out pedigree analysis for a rare child with comorbid X-linked ichthyosis (XLI) and Duchenne muscular dystrophy (DMD). METHODS: Whole exome sequencing (WES) and multiple ligation-dependent probe amplification (MLPA) were used to detect potential deletions in the STS and DMD genes. RESULTS: The proband was found to harbor hemizygous deletion of the STS gene and exons 48 to 54 of the DMD gene. CONCLUSION: The child has comorbid XLI and DMD, which is extremely rare.

UR - https://www.scopus.com/pages/publications/85135598431

U2 - 10.3760/cma.j.cn511374-20210025-00163

DO - 10.3760/cma.j.cn511374-20210025-00163

M3 - 文章

C2 - 35929940

AN - SCOPUS:85135598431

SN - 1003-9406

VL - 39

SP - 877

EP - 880

JO - Chinese Journal of Medical Genetics

JF - Chinese Journal of Medical Genetics

IS - 8

ER -

Genetic analysis for a child with comorbid X-linked ichthyosis and Duchenne muscular dystrophy

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