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Bardet–Biedl syndrome (BBS), characterized by rod-cone dystrophy, postaxial polydactyly, central obesity, hypogonadism, renal abnormalities, and mental retardation, is a rare autosomal recessive disorder. To date, 21 causative genes have been… Click to show full abstract
Bardet–Biedl syndrome (BBS), characterized by rod-cone dystrophy, postaxial polydactyly, central obesity, hypogonadism, renal abnormalities, and mental retardation, is a rare autosomal recessive disorder. To date, 21 causative genes have been reported. Here we describe a Japanese BBS patient with a novel compound heterozygous mutation in TTC8. To the best of our knowledge, this is the first description of a BBS patient with a mutation in the TTC8 gene in Japan.
Keywords:
mutation ttc8;
novel compound;
compound heterozygous;
heterozygous mutation;
mutation
Journal Title: Human Genome Variation
Year Published: 2019
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Journal Title: Human Genome Variation
Year Published: 2019
Link to full text (if available)
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recommendations!