Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders.

Pediatric Neurology
Akella Radha Rama DeviLokesh Lingappa

Abstract

Joubert syndrome and related disorders are a group of ciliopathies characterized by mid-hindbrain malformation, developmental delay, hypotonia, oculomotor apraxia, and breathing abnormalities. Molar tooth sign in brain imaging is the hallmark for diagnosis. Joubert syndrome is a clinically and genetically heterogeneous disorder involving mutations in 35 ciliopathy-related genes. We present a large cohort of 59 patients with Joubert syndrome from 55 families. Molecular analysis was performed in 35 families (trio). Clinical exome analysis was performed to identify causal mutations, and genotype-phenotype correlations were evaluated. All of the cases were stratified into pure Joubert syndrome (62.7%), Joubert syndrome with retinal disease (22.0%), polydactyly (8.5%), and liver (1.7%) and kidney (1.7%) involvement. Joubert syndrome-related disorders include Meckel-Gruber syndrome in 5.1% cases and Leber congenital amaurosis (1.7%). Of the 35 Joubert syndrome-related genes, 11 were identified in these patients, i.e., CEP290, C5ORF, TCTN1, CC2D2A, RPGRP1L, TCTN3, AHI1, INPP5E, TCTN2, NPHP1, and TMEM237. For the first time, we identified a ciliopathy gene, CCDC28B, as a causal gene in Joubert syndrome in one family. CEP290 accounted f...Continue Reading

Citations

Sep 9, 2020·Journal of Clinical Sleep Medicine : JCSM : Official Publication of the American Academy of Sleep Medicine·Jessica TaytardNicole Beydon
Sep 30, 2020·The Journal of Gene Medicine·Muhammad Ismail KhanMusharraf Jelani
Jan 7, 2021·Indian Journal of Pediatrics·Manvi SinghMeenu Singh
Mar 14, 2021·The British Journal of Ophthalmology·Malena Daich VarelaMichel Michaelides
May 9, 2021·Journal of Neuroimaging : Official Journal of the American Society of Neuroimaging·Elka MillerThierry A G M Huisman
Jul 1, 2021·NPJ Genomic Medicine·Riccardo SangermanoKinga M Bujakowska
Jul 24, 2021·Cell Death and Differentiation·Nagaja CapitaniCosima T Baldari

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