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Joubert syndrome is a neurologic disorder with abnormalities of the cerebellum and brainstem, and the Molar Tooth Sign (MTS) is the typical clinical feature. This article was to identify potential mutations in a Chinese patient with Joubert syndrome and related disorders and carry out prenatal diagnostic testing for the family by Sanger sequencing. Two variants were found in AHI1 gene by sequencing of 20 Joubert-related genes for the Chinese proband at a time, and one of the variants (c.2386_c.2380delTTTC) is novel. Sanger validation shows the 2 variants in AHI1 were inherited from each parents, separately. We did prenatal diagnosis for the proband’s mother when she was pregnant for 18 weeks, and the data shows the fetus is a carrier. This data shows the importance of the Sanger in clinical diagnosis and the prenatal diagnosis.

Molecular Diagnosis and Prenatal Diagnosis in Abelson’s Helper Integration 1 gene (AHI1) in a Family with Joubert Syndrome