A rare case of aicardi-goutières syndrome with novel rnaseh2c gene mutation: a comprehensive clinical and molecular analysis

CASE REPORTS

A Rare Case of Aicardi-Goutières Syndrome with novel RNASEH2C Gene Mutation: A Comprehensive Clinical and Molecular Analysis

Deepak Mulchandani, Vaishali Singh, Omkar Shelke.

Department of Paediatrics, Bombay Hospital, Mumbai.

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Abstract
Aicardi-Goutières syndrome (AGS) is a rare autosomal recessive disorder characterized by early-onset encephalopathy, intracranial calcifications, white matter disease, and elevated interferon-alpha levels in cerebrospinal fluid. This case report presents the clinical and molecular details of a 9-month-old male infant with AGS, harboring mutations in the RNASEH2C gene. The patient exhibited global developmental delay, hearing impairment, and a family history of similar presentations. Whole exome sequencing identified two pathogenic variants in RNASEH2C. This report provides insights into the varied phenotypic features of AGS and emphasizes the importance of genetic testing for accurate diagnosis.

Why this article important?

AGS type 3 is a rare entity but has overlapping features with routine causes of developmental delay. The treating doctor may confuse with TORCH infection or metabolic causes of developmental delay. Careful family history, the rapid progression of disease and loss of milestone in an infant should alert a treating physician for severe and rarer entities like our case. More cases are being reported of similar entity as whole exome sequencing is become freely available. It is of interest to both the neurologist and geneticist and pediatrician to be aware of such rare entities. Ours is the first case to report a novel variant associated with Aicardi Goutieres syndrome type 3.

Summary of article

The manuscript contains clinical details of patient of rare inherited neurological disease Aicardi-Goutieres syndrome. Three types of Aicardi goutieres syndrome of are known. There is significant clinical variability even within similar mutations. 7 different genes have been identified till date. There is a protein coding gene defect which leads to truncated or loss of function mutation. We identified 2 mutations, one of which is a known pathogenic variant and other was a likely pathogenic variant present in the database but not associated with this syndrome yet. The novel likely pathogenic mutation can improve reference database for this syndrome as more cases are being reported.

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