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

IF 0.4 4区医学 Q4 GENETICS & HEREDITY Clinical Dysmorphology Pub Date : 2024-10-22 DOI:10.1097/MCD.0000000000000509

Gayatri Nerakh, Swetha Koneru, Prashanth Rao Dhareneni

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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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两个患有与 ROGDI 相关的 Kohlschütter-Tönz 综合征的兄弟姐妹出现肾脏钙化、远端肾小管酸中毒和骨骼异常。

导言：KTS（Kohlschütter-Tönz）是一种罕见的常染色体隐性遗传异质性疾病，其特征是早发性癫痫发作、全面发育迟缓或倒退以及临时牙和恒牙的髓质发育不全。迄今为止，文献中已报道了 66 例病例，其中 44 例已得到遗传学证实：在此，我们报告了在印度一个小村庄的一个家庭中观察到的一对兄弟姐妹，他们出现肾钙化、远端肾小管酸中毒和骨骼异常。在此之前，仅有过一次KTS患者出现肾钙化的报道：结果：三组外显子测序结果显示，第一个孩子的 ROGDI 基因（NM_024589.3）第 9 外显子中存在一个新的、同基因的、可能致病的变异体 c.646-2_649del。桑格测序证实了两个孩子的同源性。父母双方都是同一变异体的杂合携带者：需要进一步研究，以确定 ROGDI 编码蛋白缺乏导致肾钙化和远端肾小管酸中毒的确切机制。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Clinical Dysmorphology 医学-遗传学

CiteScore

1.20

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Clinical Dysmorphology publishes succinct case reports on the etiology, clinical delineation, genetic mapping, and molecular embryology of birth defects. This journal covers such topics as multiple congenital anomaly syndromes - with particular emphasis on previously undescribed conditions, rare findings, ethnic differences in existing syndromes, fetal abnormalities, and cytogenetic aberrations that might give clues to the localization of developmental genes. Regular features include original, peer-reviewed articles, conference reports, book and software reviews, abstracts and summaries from the UK Dysmorphology Club, and literature summaries. Submitted articles undergo a preliminary review by the editor. Some articles may be returned to authors wihtout further consideration. Those being considered for publication will undergo further assessment and peer-review by the editors and those invited to do so from a reviewer pool.