Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report

Article Genetics & Heredity

SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum

Valentina Serpieri et al.

Summary: Heterozygous truncating or splice-site SUFU variants cause a novel neurodevelopmental syndrome encompassing COMA and mild JS, likely representing overlapping entities. These variants can be de novo or inherited from a healthy parent, making it the first cause of JS with dominant inheritance and reduced penetrance. Awareness of this condition will increase the diagnostic yield of JS genetic testing and allow appropriate counseling about prognosis, medical monitoring, and recurrence risk.

JOURNAL OF MEDICAL GENETICS (2022)

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Article Multidisciplinary Sciences

AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data

Mathieu Quinodoz et al.

Summary: Homozygosity mapping is a powerful method for identifying mutations in patients with recessive conditions, and AutoMap efficiently identifies runs of homozygosity in WES and WGS data, showing clear benefits for molecular diagnosis and research activities in medical genetics.

NATURE COMMUNICATIONS (2021)

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Article Developmental Biology

Novel compound heterozygous CPLANE1 variants identified in a Chinese family with Joubert syndrome

Cheng Zhang et al.

Summary: This study identified pathogenic variants in a Chinese family with JS through clinical examinations and genetic sequencing, expanding the mutation spectrum of the CPLANE1 gene related to autosomal recessive JS.

INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE (2021)

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Article Genetics & Heredity