Genetic testing and genotype-phenotype analysis for a child with X-linked hypohidrotic ectodermal dysplasia
OBJECTIVE: To carry out genetic testing for a Chinese patient with X-linked hypohidrotic ectodermal dysplasia (XLHED) and explore its genotype-phenotype correlation.
METHODS: Clinical data of the patient was collected. Peripheral blood samples were taken from the patient, his parents and 100 unrelated healthy controls. Genetic variants were detected by using next-generation sequencing using a skin-disease panel through targeted capture and next generation sequencing. Candidate variant was verified by Sanger sequencing. All literature related to genetic testing of XLHED patients in China was searched in the database, and the genotypes and phenotypes of patients in the literature and the correlation between them were statistically analyzed.
RESULTS: A novel splice site variant c.655_689del was detected in the patient but not among his parents and the 100 unrelated healthy controls. So far 61 variants of the EDA gene have been identified among Chinese patients with XLHED, which suggested certain degree of genotype-phenotype correlation.
CONCLUSION: A novel c.655_689del variant has been identified in the EDA gene, which has expanded the spectrum of EDA gene variant and facilitated delineation of the genotype-phenotype correlation of XLHED.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2021 |
|---|---|
| Erschienen: |
2021 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:38 |
|---|---|
| Enthalten in: |
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 38(2021), 6 vom: 10. Juni, Seite 557-560 |
| Sprache: |
Chinesisch |
|---|
| Beteiligte Personen: |
Wang, Jianbo [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
|---|
| Anmerkungen: |
Date Completed 08.06.2021 Date Revised 08.06.2021 published: Print Citation Status MEDLINE |
|---|
| doi: |
10.3760/cma.j.cn511374-20200622-00464 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM326442480 |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM326442480 | ||
| 003 | DE-627 | ||
| 005 | 20231225194616.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231225s2021 xx |||||o 00| ||chi c | ||
| 024 | 7 | |a 10.3760/cma.j.cn511374-20200622-00464 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1088.xml |
| 035 | |a (DE-627)NLM326442480 | ||
| 035 | |a (NLM)34096025 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a chi | ||
| 100 | 1 | |a Wang, Jianbo |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Genetic testing and genotype-phenotype analysis for a child with X-linked hypohidrotic ectodermal dysplasia |
| 264 | 1 | |c 2021 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 08.06.2021 | ||
| 500 | |a Date Revised 08.06.2021 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a OBJECTIVE: To carry out genetic testing for a Chinese patient with X-linked hypohidrotic ectodermal dysplasia (XLHED) and explore its genotype-phenotype correlation | ||
| 520 | |a METHODS: Clinical data of the patient was collected. Peripheral blood samples were taken from the patient, his parents and 100 unrelated healthy controls. Genetic variants were detected by using next-generation sequencing using a skin-disease panel through targeted capture and next generation sequencing. Candidate variant was verified by Sanger sequencing. All literature related to genetic testing of XLHED patients in China was searched in the database, and the genotypes and phenotypes of patients in the literature and the correlation between them were statistically analyzed | ||
| 520 | |a RESULTS: A novel splice site variant c.655_689del was detected in the patient but not among his parents and the 100 unrelated healthy controls. So far 61 variants of the EDA gene have been identified among Chinese patients with XLHED, which suggested certain degree of genotype-phenotype correlation | ||
| 520 | |a CONCLUSION: A novel c.655_689del variant has been identified in the EDA gene, which has expanded the spectrum of EDA gene variant and facilitated delineation of the genotype-phenotype correlation of XLHED | ||
| 650 | 4 | |a Journal Article | |
| 650 | 7 | |a Ectodysplasins |2 NLM | |
| 700 | 1 | |a Liang, Mingyu |e verfasserin |4 aut | |
| 700 | 1 | |a Dou, Jinfa |e verfasserin |4 aut | |
| 700 | 1 | |a Shao, Yi |e verfasserin |4 aut | |
| 700 | 1 | |a Wang, Chen |e verfasserin |4 aut | |
| 700 | 1 | |a Li, Ming |e verfasserin |4 aut | |
| 700 | 1 | |a Zhang, Shoumin |e verfasserin |4 aut | |
| 700 | 1 | |a Li, Zhenlu |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics |d 1998 |g 38(2021), 6 vom: 10. Juni, Seite 557-560 |w (DE-627)NLM093687478 |x 1003-9406 |7 nnns |
| 773 | 1 | 8 | |g volume:38 |g year:2021 |g number:6 |g day:10 |g month:06 |g pages:557-560 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.3760/cma.j.cn511374-20200622-00464 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 38 |j 2021 |e 6 |b 10 |c 06 |h 557-560 | ||