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Whole exome sequencing identified a novel compound heterozygous variation in COL7A1 gene causing dystrophic epidermolysis bullosa.
Cui, Li-Min; Jiang, Jian-Ye; Hu, Ning-Ning; Zou, Hong-En; Zhao, Bao-Zhen; Han, Cong-Ying; Yang, Kai; Wang, Yi-Peng; Xing, Huan-Xia.
Afiliación
  • Cui LM; Prenatal Diagnosis Center, Langfang Maternal and Child Health Care Hospital, Langfang, China.
  • Jiang JY; Prenatal Diagnosis Center, Langfang Maternal and Child Health Care Hospital, Langfang, China.
  • Hu NN; Prenatal Diagnosis Center, Langfang Maternal and Child Health Care Hospital, Langfang, China.
  • Zou HE; Prenatal Diagnosis Center, Langfang Maternal and Child Health Care Hospital, Langfang, China.
  • Zhao BZ; Prenatal Diagnosis Center, Langfang Maternal and Child Health Care Hospital, Langfang, China.
  • Han CY; Prenatal Diagnosis Center, Langfang Maternal and Child Health Care Hospital, Langfang, China.
  • Yang K; Prenatal Diagnosis Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, China.
  • Wang YP; Prenatal Diagnosis Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, China.
  • Xing HX; Prenatal Diagnosis Center, Langfang Maternal and Child Health Care Hospital, Langfang, China.
Mol Genet Genomic Med ; 10(5): e1907, 2022 05.
Article en En | MEDLINE | ID: mdl-35225434
Dystrophic epidermolysis bullosa (DEB) is a series of severe genetic conditions affecting skin and nails caused by mutations in the COL7A1 gene. DEB has a strong phenotypic variability. In the present study, we recruited a case with a boy exhibiting typical DEB indication, and performed a clinical, genetic, and experimental investigation, followed by a prenatal diagnosis on their current pregnancy. Whole exome sequencing identified a novel compound heterozygous variation in COL7A1, consisting of two variants, namely c.191T>C (p.Leu64Pro) and c.5124G>A (p.Leu1708=) in the proband. In vitro study by minigene system indicated that c.5124G>A would result in an increased ratio of a transcript with exon-skipping, which supported its pathogenicity. Further prenatal detection confirmed the genotype-phenotye co-separation in this family. In conclusion, the findings in our study expanded the mutation spectrum of DEB, and emphasized the importance of paying attention to specific synonymous variants in the filtering process.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Epidermólisis Ampollosa Distrófica / Colágeno Tipo VII Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male / Pregnancy Idioma: En Revista: Mol Genet Genomic Med Año: 2022 Tipo del documento: Article País de afiliación: China Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Epidermólisis Ampollosa Distrófica / Colágeno Tipo VII Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male / Pregnancy Idioma: En Revista: Mol Genet Genomic Med Año: 2022 Tipo del documento: Article País de afiliación: China Pais de publicación: Estados Unidos