TMEM67 mutations found in a case of Joubert syndrome with renal hypodysplasia

CEN Case Reports
Yumiko KomatsuKunimasa Yan

Abstract

Joubert syndrome is a rare inherited cerebellar ataxia with the dysgenesis of the cerebellar vermis, called the molar tooth sign. The combination of a large number of causative genes, more than 27, and the various clinical features involving multiple organs has established many genotypic-phenotypic correlations in Joubert syndrome. TMEM67 is one of the genes that are relatively well established as contributing to Joubert syndrome with liver involvement. Here, we report a 2-month-old boy who was initially treated for urinary tract infection, which further led to the diagnosis of Joubert syndrome accompanied by renal hypodysplasia with two different mutations: c.2522A>C and c.1065 + 4Adel in TMEM67.

References

Apr 30, 2013·Handbook of Clinical Neurology·Enza Maria ValenteEnrico Bertini
Jul 23, 2013·Lancet Neurology·Marta RomaniEnza Maria Valente
Jun 21, 2015·Journal of Medical Genetics·R Bachmann-GagescuD Doherty
Jun 26, 2015·Journal of Human Genetics·Yoshinori TsurusakiNaomichi Matsumoto

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Citations

Jul 20, 2016·Clinical Genetics·T SuzukiN Matsumoto

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