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Joubert Syndrome Panel

Joubert syndrome is a disorder of brain development that may affect many parts of the body. It is characterized by the absence or underdevelopment of the cerebellar vermis (a part of the brain that controls balance and coordination) and a malformed brain stem (connection between the brain and spinal cord). Together, these cause the characteristic appearance of a molar tooth sign on MRI. Signs and symptoms can vary but commonly include hypotonia; abnormal breathing patterns; abnormal eye movements; ataxia; distinctive facial features; and intellectual disability. Various other abnormalities may also be present. It is inherited following an autosomal recessive pattern, but rarely it may be X-linked. The DBGen Joubert Syndrome Panel analyzes the coding region of 42 genes and 4 deep intronic mutations.

Main Pathologies


The panel includes the genes most often responsible for the following disorders:

  • Joubert Syndrome


Panel type and genes analyzed


MEDIUM

NGS sequencing of all coding and splice regions, comprising at least 20 nucleotides of the intron regions flanking the exon-intron boundaries.

AHI1, ANKS6, ARL13B, ARMC9, B9D1, B9D2, C2CD3, C21ORF2, C5ORF42, CC2D2A, CCDC41, CEP104, CEP41, CEP120, CEP164, CEP290, CSPP1, GLIS2, IFT81, INPP5E, KATNIP, KIAA0586, KIAA0753, KIF7, MKS1, NEK8, NPHP1, NPHP3, OFD1, PDE6D, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423

NGS sequencing of reported mutations in non-coding regions:

C21ORF2 c.643-23A>T, CEP290 c.2991+1655A>G; OFD1 c.935+706A>G, c.1130-22_1130-19delAATT

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