Expanding the Phenotype of the <i>FAM149B1</i>-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family

Expanding the Phenotype of the <i>FAM149B1</i>-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family

Biallelic truncating <i>FAM149B1</i> variants result in cilia dysfunction and have been reported in four infants with Joubert syndrome and orofaciodigital syndrome type VI, respectively. We report here on three adult siblings, 18 to 40 years of age, homozygous for the known <i>FAM1...

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Bibliographic Details
Main Authors: Sandy Siegert, Gabriel T. Mindler, Christof Brücke, Andreas Kranzl, Janina Patsch, Markus Ritter, Andreas R. Janecke, Julia Vodopiutz
Format: Article
Language:English
Published: MDPI AG 2021-10-01
Series:Genes
Subjects:
<i>KMT2B</i>
<i>POLG2</i>
<i>FAM149B1</i>
ciliopathy
duane syndrome
precision medicine
Online Access:https://www.mdpi.com/2073-4425/12/11/1648

Internet

https://www.mdpi.com/2073-4425/12/11/1648

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