The deafness-causing mutation XXXX in the @entity3492 gene and a literature review.

@entity1 @entity72190 @entity72188 @entity3492 @entity3491 @entity72189 @entity393
CONCLUSIONS: The mutation @entity72188 in @entity3492 gene has been incorrectly named as other mutations. It is essential to standardize mutation nomenclature to describe complex mutations. OBJECTIVES: This paper aimed to verify a series of @entity1 with the frame-shift mutation @entity72188 in the @entity3492 gene and review the literature on related mutations. METHODS: All the included @entity1 with @entity3491 ( @entity3491 ) carried the @entity72189 or @entity72188 mutation of the @entity3492 gene in the present study. Their parents were encouraged to participate. After written informed consent and clinic data had been obtained, genomic DNA was extracted from venous blood of @entity1 . The target fragments were amplified by polymerase chain reaction (PCR) and subjected to bidirectional sequencing to identify sequence variations. RESULTS: A total of 14 @entity1 with prelingual @entity3491 and 6 normal parents were recruited. Genotyping revealed that one mutation, @entity72188 ( @entity72190 ), was homozygous in 1 @entity1 , heterozygous in 2 @entity1 and 3 parents, and compound heterozygous in 11 @entity1 . Twelve @entity1 had @entity393 caused by @entity72188 in a homozygous or compound heterozygous form, and further study showed that it was wrongly named as @entity72189 . Additionally, according to the standard nomenclature, the previously reported mutations with distinct names from the literature review may be replaced by @entity72188 .
