Whole-exome sequencing identified a novel heterozygous variant UBAP2L in a Chinese family with Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies

Name: Whole-exome sequencing identified a novel heterozygous variant UBAP2L in a Chinese family with Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies
Creator: Qi Yang
Published: 2024-09-20T18:20:19.797Z
Keywords: Gene, Genetic Generalized Epilepsy

Yang, Qi

doi:10.17632/92ss7b8ppb.1

Whole-exome sequencing identified a novel heterozygous variant UBAP2L in a Chinese family with Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies

Published: 20 September 2024| Version 1 | DOI: 10.17632/92ss7b8ppb.1

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Qi Yang

Description

UBAP2L-deficiency syndrome is an autosomal dominant disorder. The disease is caused by heterozygous variant in the UBAP2L gene (NM_014847.4, MIM 616472).Whole exome sequencing was performed and revealed a novel heterozygous frameshift variant in UBAP2Lin the proband.

Whole-exome sequencing identified a novel heterozygous variant UBAP2L in a Chinese family with Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies

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