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Case Reports
. 2025 Jan 1;34(1):1-5.
doi: 10.1097/MCD.0000000000000509. Epub 2024 Oct 22.

Nephrocalcinosis, distal renal tubular acidosis and skeletal abnormality in two siblings with ROGDI -related Kohlschütter-Tönz syndrome

Gayatri Nerakh  1 , Swetha Koneru  2 , Prashanth Rao Dhareneni  1
Affiliations
Case Reports

Nephrocalcinosis, distal renal tubular acidosis and skeletal abnormality in two siblings with ROGDI -related Kohlschütter-Tönz syndrome

Gayatri Nerakh et al. Clin Dysmorphol. .

Abstract

Introduction: Kohlschütter-Tönz (KTS) is a rare autosomal recessive, genetically heterogeneous disorder characterized by a triad of early-onset seizures, global developmental delay or regression, and amelogenesis imperfecta of both temporary and permanent teeth. To date, 66 cases have been reported in the literature, of which 44 with genetic confirmation.

Case report: Here we report the observation of sibling pairs in a family from a small village in India who presented with nephrocalcinosis, distal renal tubular acidosis, and skeletal abnormality. Nephrocalcinosis has only been reported once before in an individual affected with KTS.

Results: Trio exome sequencing revealed a novel, homozygous, likely pathogenic variant, c.646-2_649del, in exon 9 of the ROGDI gene (NM_024589.3) in the first child. Sanger sequencing confirmed homozygosity in both children. Both parents are heterozygous carriers of the same variant.

Conclusion: Further research needs to be done to identify the exact mechanism by which ROGDI -encoded protein deficiency leads to nephrocalcinosis and distal renal tubular acidosis.

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References

    1. Akgün-Doğan O, Simsek-Kiper PO, Taşkiran E, Schossig A, Utine GE, Zschocke J, Boduroglu K (2021). Kohlschütter-Tönz syndrome with a novel ROGD1 variant in 3 individuals: a rare clinical entity. J Child Neurol 36:816–822.
    1. Aswath N, Ramakrishnan SN, Teresa N, Ramanathan A (2018). A novel ROGDI gene mutation is associated with Kohlschutter-Tonz syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol 125:e8–e11.
    1. Donnai D, Tomlin PI, Winter RM (2005). Kohlschutter syndrome in siblings. Clin Dysmorphol 14:123–126.
    1. Genc sel C, Ceylan AC, yayicikoken O, Yüksel D, Karli Oğuz K (2020). A rare neurodegenerative disorder with a novel mutation in ROGDI and Rett-like phenotype: Kohlschütter- Tönz syndrome. Neurology Asia 25:403–413.
    1. Haberlandt E, Svejda C, Felber S, Baumgartner S, Günther B, Utermann G, Kotzot D (2006). Yellow teeth, seizures, and mental retardation: a less severe case of Kohlschutter-Tonz syndrome. Am J Med Genet A 140:281–283.

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