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Single nucleotide polymorphism array analysis uncovers a large, novel duplication in Xq13.1 in a floppy infant syndrome patient
Author(s) -
Liu Min,
Wang Yuhuan,
Yang Sijia,
Wei He,
Tuo Miao,
Chang Fei,
Wang Yuhui
Publication year - 2019
Publication title -
international journal of developmental neuroscience
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.761
H-Index - 88
eISSN - 1873-474X
pISSN - 0736-5748
DOI - 10.1016/j.ijdevneu.2018.09.004
Subject(s) - gene duplication , snp array , proband , single nucleotide polymorphism , genetics , snp , biology , gene , candidate gene , copy number variation , genome , mutation , genotype
Objective To identify candidate genes for the clinical diagnosis of floppy infant syndrome (FIS) using single nucleotide polymorphism (SNP) array in a specific FIS family. Methods SNP array analysis of the whole chromosome copy number was performed in the proband (III 1 ). Multiple polymerase chain reaction (PCR) combined with denaturing high‐performance liquid chromatography (DHPLC) was used to validate the array data. Results A large 5.818182 Mb duplication (Xq13.1: 67987646–73805828), which encompasses 66 known genes, was found in III 1 . The start and end points of the duplication were confirmed with an SNP array. Duplicated genes with potential roles in central and/or peripheral nervous system development ( HDAC8, PHKA1 , TAF1 , DLG3 , KIF4A , IGBP1 , PJA1, and SLC16A2 ) were confirmed by multiple PCR‐DHPLC in III 1 . The patient's mother and grandmother carry duplications in these eight genes, but only on one X chromosome, while the patient's aunt does not carry any of the duplications. Conclusion Based on the location of the eight candidate genes in Xq13.1, the large duplication found by SNP array does indeed exist and is predicted to be both novel and pathogenic. Moreover, we recommend SNP array as the first option for genetic diagnosis of both large‐scale and rare/complicated diseases, such as FIS.