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Case Reports
. 2021 Nov 15:9:754261.
doi: 10.3389/fped.2021.754261. eCollection 2021.

A New Case of de novo Variant c.892C>T (p.Arg298Trp) in NACC1: A First Case Report From China

Baiyu Lyu  1 , Yan Dong  1 , Juan Kang  1
Affiliations
Case Reports

A New Case of de novo Variant c.892C>T (p.Arg298Trp) in NACC1: A First Case Report From China

Baiyu Lyu et al. Front Pediatr. .

Abstract

Background: The nucleus accumbens associated 1 (NACC1) gene is a transcription factor member of the BTB/POZ family. A de novo heterozygous c.892C>T (p.Arg298Trp) variant in the NACC1 may define a syndrome characterized by intellectual disability, infantile epilepsy, congenital cataract, and feeding difficulties. Case Presentation: We report a new case with a neurodevelopmental disorder characterized by severe intellectual disability, infantile epilepsy, congenital cataract, and feeding difficulties. Brain MRI reveals brain dysplasia. We observe a de novo heterozygous c.892C>T (p.Arg298Trp) variant in the NACC1 gene in this case. Now, the child regularly goes to the hospital for rehabilitation training (once a month). Sodium Valproate (10 mg/kg/day) and Clobazam (10 mg/kg/day) are used in the treatment of epilepsy. A total of three articles were screened, and two papers were excluded. The search revealed one article related to a syndrome caused by a de novo heterozygous c.892C>T (p.Arg298Trp) variant in the NACC1; they screened the main clinical features of eight cases of a syndrome, which were summarized and analyzed. Conclusions: The NACC1 gene is a member of the BTB/POZ family of transcription factors. A de novo heterozygous c.892C>T (p.Arg298Trp) variant in the NACC1 may define a syndrome characterized by intellectual disability, infantile epilepsy, congenital cataract, and feeding difficulties. At present, there is no effective cure. In the future, we need more cases to determine the phenotype-genotype correlation of NACC1 variants. Many questions remain to be answered, and many challenges remain to be faced. Future transcriptional studies may further clarify this rare, recurrent variant, and could potentially lead to targeted therapies.

Keywords: NACC1; congenital cataract; feeding difficulties; infantile epilepsy; intellectual disability.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
A timeline with relevant data from the patient episode of care.
Figure 2
Figure 2
De novo c.892C>T (p.Arg298Trp) missense change in NACC1. (A) Pedigree of the family. A heterozygous missense was detected in the proband but not the parents. (B) Sanger validation of the missense variant in the proband and parents. Arrow indicates the site of the variant.
See this image and copyright information in PMC

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