Novel splice site and nonsense variants in INVS cause infantile nephronophthisis

Research output: Contribution to journalArticle

Abstract

Nephronophthisis is an autosomal recessive disease characterized by cystic kidney disease with progression to end-stage kidney disease in children and adolescents with or without extra-renal involvement. It is caused by biallelic pathogenic variants in 19 genes including INVS that encodes a ciliary protein essential for renal development and left-right axis establishment. We report a child with bilateral enlarged, echogenic, polycystic kidneys with end-stage renal disease, anemia and metabolic acidosis caused by biallelic novel pathogenic variants, c.796 + 5G > A and c.1789C > T in INVS. We show that the variant, c.796 + 5G > A disrupts the canonical splicing and nonsense variant, c.1789C > T results in nonsense mediated decay.

Original languageEnglish
Article number144229
JournalGene
DOIs
Publication statusAccepted/In press - 01-01-2019

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Chronic Kidney Failure
Cystic Kidney Diseases
Kidney
Polycystic Kidney Diseases
Acidosis
Disease Progression
Anemia
Genes
Proteins
Nephronophthisis 2

All Science Journal Classification (ASJC) codes

  • Genetics

Cite this

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title = "Novel splice site and nonsense variants in INVS cause infantile nephronophthisis",
abstract = "Nephronophthisis is an autosomal recessive disease characterized by cystic kidney disease with progression to end-stage kidney disease in children and adolescents with or without extra-renal involvement. It is caused by biallelic pathogenic variants in 19 genes including INVS that encodes a ciliary protein essential for renal development and left-right axis establishment. We report a child with bilateral enlarged, echogenic, polycystic kidneys with end-stage renal disease, anemia and metabolic acidosis caused by biallelic novel pathogenic variants, c.796 + 5G > A and c.1789C > T in INVS. We show that the variant, c.796 + 5G > A disrupts the canonical splicing and nonsense variant, c.1789C > T results in nonsense mediated decay.",
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Novel splice site and nonsense variants in INVS cause infantile nephronophthisis. / Somashekar, Puneeth H.; Upadhyai, Priyanka; Shula, Anju; Girisha, Katta M.

In: Gene, 01.01.2019.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Novel splice site and nonsense variants in INVS cause infantile nephronophthisis

AU - Somashekar, Puneeth H.

AU - Upadhyai, Priyanka

AU - Shula, Anju

AU - Girisha, Katta M.

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AB - Nephronophthisis is an autosomal recessive disease characterized by cystic kidney disease with progression to end-stage kidney disease in children and adolescents with or without extra-renal involvement. It is caused by biallelic pathogenic variants in 19 genes including INVS that encodes a ciliary protein essential for renal development and left-right axis establishment. We report a child with bilateral enlarged, echogenic, polycystic kidneys with end-stage renal disease, anemia and metabolic acidosis caused by biallelic novel pathogenic variants, c.796 + 5G > A and c.1789C > T in INVS. We show that the variant, c.796 + 5G > A disrupts the canonical splicing and nonsense variant, c.1789C > T results in nonsense mediated decay.

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