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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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Published on: April 4, 2018

Primary hyperoxaluria type 1 with a novel mutation.

Sidharth Kumar Sethi¹, Hans R Waterham, Sonika Sharma

¹Departments of Clinical Chemistry & Pediatrics, Academic Medical Centre, Amsterdam, The Netherlands.

Indian Journal of Pediatrics

|September 24, 2008

Summary

This summary is machine-generated.

Primary hyperoxaluria type 1 (PH1) is a genetic disorder affecting the AGXT gene. A novel mutation was identified in an Indian family, leading to severe kidney disease in one sibling.

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Area of Science:

Genetics
Biochemistry
Pediatric Nephrology

Background:

Primary hyperoxaluria type 1 (PH1) is an inherited metabolic disorder.
It results from a deficiency in the enzyme alanine-glyoxylate aminotransferase (AGT).
The AGT enzyme is encoded by the AGXT gene.

Observation:

A consanguineous Indian family presented with two siblings affected by PH1.
The index case developed end-stage renal disease (ESRD) at a very young age (5 months).
The sibling, diagnosed at 4 months, is currently under observation with preserved kidney function.

Findings:

A novel mutation in the AGXT gene was identified in the affected siblings.
This mutation was inherited from their parents, confirming an autosomal recessive inheritance pattern.
The findings highlight genetic heterogeneity and variable clinical presentation in PH1.

Implications:

Early identification of novel AGXT mutations is crucial for genetic counseling.
Understanding genotype-phenotype correlations can aid in predicting disease progression.
This case report contributes to the understanding of PH1 in the Indian subcontinent.