Journal of Shandong University (Health Sciences) ›› 2020, Vol. 58 ›› Issue (4): 105-109.doi: 10.6040/j.issn.1671-7554.0.2019.1529

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A case of syndromic neurodevelopmental disorder caused by heterozygous mutation in EBF3

LIU Na1, LIU Qiji2, MOU Kai1, CHENG Cuiyun1   

  1. 1. Prenatal Diagnosis Center, Zibo Maternal and Child Health Hospital, Zibo 255000, Shandong, China;
    2. Key Laboratory for Experimental Teratology of the Ministry of Education and Department of Medical Genetics, Shandong University School of Basic Medical Sciences, Jinan, Shandong, 250012, China
  • Published:2022-09-27

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Abstract: Objective To explore the genetic basis of an infant with global developmenfal delay, mental retardation,hypotonia and ataxia. Methods The clinical phenotypes of the infant were analyzed. Peripheral blood samples were collected from the infant and his parents. The infant blood sample underwent G-banding chromosome analysis and SNP-array. The infant and his parents’ blood samples underwent whole exome sequencing. The pathogenicity of mutation sites was analyzed with bioinformatics. Results The G-band chromosome analysis and SNP-array of the infant showed no pathogenic mutation. The whole exome sequencing revealed that there was a heterozygous mutation of EBF3 c.626G>A(p.Arg209Gln)in the infant, which was validated by Sanger sequencing, but the parents had no such mutation. Conclusion The heterozygous mutation of EBF3 c.626G>A(p.Arg209Gln)probably underlies the disorder in the infant, which has not been reported in China.

Key words: Hypotonia, ataxia and delayed development syndrome, Whole exome sequencing, EBF3 gene, Gene mutation

CLC Number: 

  • R596.2
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