The role of NACC1 c.892C>T (p.Arg298Trp) variant in a neurodevelopmental disorder: report of two new cases

Author:

Folques Carolina,Aguiar Liza,Carvalho Ana Luisa,Paiva Catarina,Dias Patricia,Sa Mariana Soeiro,Monteiro Jose Paulo,Palavra Filipe

Publisher

Pediatric Oncall Pvt Ltd

Subject

General Medicine

Reference5 articles.

1. Weizmann Institute of Science. GeneCards - The Human Gene Database. Available at: https://www.genecards.org/cgi-bin/carddisp.pl?gene=NACC1. Accessed at 15th January 2023.

2. Lyu B, Dong Y, Kang J. A New Case of de novo Variant c.892C>T (p.Arg298Trp) in NACC1: A First Case Report From China. Front Pediatr. 2021;9.

3. Schoch K, Meng L, Szelinger S, Bearden D, Stray-Pedersen A, Busk O et al. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. Am. J. Hum. Genet. 2017;100(2):343-351.

4. Pavinato L, Villamor-Paya M, Sanchiz-Calvo M, Andreoli C, Gay M, Vilaseca M et al. Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis. J. Med. Genet.. 2020;59(2):170-179.

5. Bellucco F, Mello C, Meloni V, Melaragno M. Malan syndrome in a patient with 19p13.2p13.12 deletion encompassing NFIX and CACNA1A genes: Case report and review of the literature. Mol Genet Genomic Med. 2019;7(12).

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