Journal: Human Mutation

Article Title: CDHR2 c.2233C > T Is Involved in Human Familial Ovarian Immature Teratoma With BMP15 c.262C > T

doi: 10.1155/humu/8441244

Figure Lengend Snippet: Mutations in familial OIT. (A) CDHR2 c.2233C > T (p.R745X) was identified by Sanger sequencing. The mutation site is indicated by the red arrow. (B) Sanger sequencing results of individuals from families without CDHR2 nonsense mutations. (C) The genealogy of the OIT lineage in our investigation is depicted using square symbols for males and round symbols for females. The affected individuals are marked in black, and the arrow denotes the proband. Genotypes of BMP15 c.262C > T and CDHR2 c.2233C > T are shown below each symbol.

Article Snippet: Candidate variants were amplified by conventional PCR methods and validated by Sanger sequencing using specific primers by Shanghai Generay Biotech Co., Ltd. ( https://www.generay.com.cn ).

Techniques: Sequencing, Mutagenesis

Journal: Human Mutation

Article Title: CDHR2 c.2233C > T Is Involved in Human Familial Ovarian Immature Teratoma With BMP15 c.262C > T

doi: 10.1155/humu/8441244

Figure Lengend Snippet: Diagram of the human CDHR2 gene, protein, and mutant variants. (A) CDHR2 gene structure. The purple and yellow boxes indicate the noncoding domains and exons, respectively. The mutation site is indicated by the red triangle. (B) The primary sequence of the CDHR2 protein and its variant product (p.R745X). The red and green boxes represent extracellular cadherin (EC) repeats and transmembrane (TM) domains of the protein, respectively. PBM indicates the PDZ‐binding motif of CDHR2. A double slash represents a nonsense terminus.

Article Snippet: Candidate variants were amplified by conventional PCR methods and validated by Sanger sequencing using specific primers by Shanghai Generay Biotech Co., Ltd. ( https://www.generay.com.cn ).

Techniques: Mutagenesis, Sequencing, Variant Assay, Binding Assay