Oral diseases · 1995
Nance-Horan syndrome: a contiguous gene syndrome involving deletion of the amelogenin gene? A case report and molecular analysis.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Franco E, Hodgson S, Lench N, Roberts G J
Аннотация
DESIGN: A case of Nance-Horan syndrome in a male is presented, with some features of the condition in his carrier mother and her mother. It is proposed that Nance-Horan syndrome might be a contiguous gene syndrome mapping to chromosome Xp21.2-p22.3.
SETTING: The proband had congenital cataract microphthalmia and dental abnormalities including screwdriver shaped incisors and evidence of enamel pitting hypoplasia. The region Xp21.2-p22.3 also contains the tooth enamel protein gene, amelogenin (AMGX).
RESULTS: Using molecular genetic techniques, we have shown that there is no evidence that the AMGX gene is deleted in this case of the Nance-Horan syndrome.
SETTING: The proband had congenital cataract microphthalmia and dental abnormalities including screwdriver shaped incisors and evidence of enamel pitting hypoplasia. The region Xp21.2-p22.3 also contains the tooth enamel protein gene, amelogenin (AMGX).
RESULTS: Using molecular genetic techniques, we have shown that there is no evidence that the AMGX gene is deleted in this case of the Nance-Horan syndrome.
Предметные рубрики MeSH
Abnormalities, MultipleAdolescentAmelogeninBase SequenceBlotting, SouthernCataractChromosome AberrationsChromosome DeletionChromosome DisordersChromosome MappingDNA PrimersDental Enamel HypoplasiaDental Enamel ProteinsHumansMaleMicrophthalmosMolecular Sequence DataPolymerase Chain ReactionSyndromeTooth AbnormalitiesX Chromosome