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Clinical and Experimental Obstetrics & Gynecology  2020, Vol. 47 Issue (3): 442-445    DOI: 10.31083/j.ceog.2020.03.5336
Case Report Previous articles | Next articles
A rare case of COL71A1 heterozygous mutations resulting in neonatal dystrophic epidermolysis bullosa
Q. Yuan2, †, D. Hu1, †, T.T. Zhu1, Q.W. Zhang1, Y.H. Gong1, *()
1Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University) of Ministry of Education, Chengdu, P.R. China
2Department of Obstetrics and Gynaecology, Pujiang People's Hospital, Pujiang, P.R. China
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Abstract  

Epidermolysis bullosa is a group of rare hereditary vesicular skin diseases associated with mutations of COL7A1. At present, there is no effective treatment. Approximately forty percent of patients die within the first year of life, and the quality of life of survivors is seriously compromised. Pre-pregnancy genetic counseling and prenatal diagnosis is of great clinical significance for these patients and families. We describe a rare case of dystrophic epidermolysis bullosa secondary to heterozygous mutations in COL7A1.

Key words:  Epidermolysis bullosa      Hereditary      No effective treatment      COL71A1     
Submitted:  26 August 2019      Accepted:  31 October 2019      Published:  15 June 2020     
*Corresponding Author(s):  YUNHUI GONG     E-mail:  yunhuigong@126.com
About author:  Contributed equally.

Cite this article: 

Q. Yuan, D. Hu, T.T. Zhu, Q.W. Zhang, Y.H. Gong. A rare case of COL71A1 heterozygous mutations resulting in neonatal dystrophic epidermolysis bullosa. Clinical and Experimental Obstetrics & Gynecology, 2020, 47(3): 442-445.

URL: 

https://ceog.imrpress.com/EN/10.31083/j.ceog.2020.03.5336     OR     https://ceog.imrpress.com/EN/Y2020/V47/I3/442

Figure1.  — There is a 3.0 cm × 4.0 cm skin lesion at the dorsum of the right foot, with a bright red surface, no exudate. No obvious mucous membrane on the lip, right upper and lower gums, tongue tip and pharynx, the surface was bright red, without any exudate.

Figure 2.  — There was no contracture of extremities or joints.

Table 1  — Genetic screening of the patient and his family
Sequencing quality Sequencing coverage Average sequencing depth Percentage of average sequencing depth > 20x
100% 342 99.8%
Results of high-throughput sequencing Clinically relevant mutated gene Transcript
Exon No.
Nucleotide change Amino acid change Chromosomal location Sequencing depth Hox/Hex Carrier rate
(ExAC East asian)
Hereditary pattern
COL7A1 NM_000094exon11 c.1372C>T p.Gln458Smiddle Chr3-48629241 141/157 (0.53) Hex AD/AR
COL7A1 NM_000094exon2 c.134G>T p.Gly45Val Chr3-48631933 178/152 (0.46) Hex AD/AR
Family validation result:
Gene Mutation site Infant Father Mother
COL7A1 c.1372C>T Heterozygous mutation None Heterozygous mutation
COL7A1 c.134G>T Heterozygous mutation Heterozygous mutation None
Results of sequencing:
Two heterozygous mutations at COL7A1 were identified. Results of family members revealed that both parents are heterozygous mutation carriers and the 2 mutations of the infant were inherited from them.
Remarks:
This sequencing methods involved a comprehensive screening of exons related to hereditary skin diseases, type of mutations analyzed include point mutation, insertion mutation and deletion mutation.
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