Whole Exome Sequencing Study of a Multizygotic Quadruplet Discordant for Autism Spectrum Disorder Reveals Novel Autism Candidate Genes

被引:0
作者
Anitha, Ayyappan [1 ]
Banerjee, Moinak [2 ]
Thanseem, Ismail [1 ]
Melempatt, Nisha [3 ]
Prakash, Anil [2 ]
Iype, Mary [4 ,5 ]
Thomas, Sanjeev V. [4 ,5 ]
机构
[1] Inst Commun & Cognit Neurosci ICCONS, Dept Neurogenet, Palakkad 679523, Kerala, India
[2] Rajiv Gandhi Ctr Biotechnol, Dept Neurobiol, Thiruvananthapuram, Kerala, India
[3] ICCONS, Dept Audiol & Speech Language Pathol ASLP, Palakkad, Kerala, India
[4] ICCONS, Dept Neurol, Thiruvananthapuram, Kerala, India
[5] ICCONS, Dept Neurol, Palakkad, Kerala, India
关键词
Autism spectrum disorder; multizygotic; neurodevelopment; quadruplet; synapse; whole exome sequencing; ASSISTED REPRODUCTIVE TECHNOLOGY; ASSOCIATION; BORN;
D O I
10.4103/neurol-india.Neurol-India-D-24-00651
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
Autism spectrum disorder (ASD) is a childhood-onset complex neurodevelopmental disorder. We carried out a comprehensive genetic study of a quadruplet discordant for ASD to identify the candidate genes of ASD. Whole exome sequencing (WES) was done for the quadruplet and their parents. We identified 218 proband-specific de novo single nucleotide variants (SNVs) and 100 indels, none of which were deleterious. Among these, nine SNVs and six indels are reported in autism databases. A homozygous recessive non-synonymous SNV in TRAM2, and a pair of compound heterozygous non-synonymous SNVs in DGKD, all of which were proband-specific, were predicted to be deleterious. These are novel candidate genes for ASD. Genes harboring proband-specific de novo and inherited variants were enriched in the biological processes related to synaptic transmission and neurodevelopment. This is the first genetic study of a quadruplet in ASD.
引用
收藏
页码:152 / 155
页数:6
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