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A novel CUL7 mutation in a Japanese patient with 3M syndrome.

ABSTRACT: 3M syndrome is an autosomal recessive disease characterized by severe pre-natal and post-natal growth retardation, dysmorphic facial features, and skeletal abnormalities. We present a patient with 3M syndrome caused by the compound heterozygous mutations p.Trp68* and p.Gly1452Asp in CUL7, the latter of which is novel, who exhibited a good body height response to growth hormone treatment. These results expand our knowledge of phenotype-genotype correlations in 3M syndrome, including correlations relevant to growth hormone response.

SUBMITTER: Takatani T

PROVIDER: S-EPMC6199316 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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A novel CUL7 mutation in a Japanese patient with 3M syndrome.

Takatani Tomozumi T Shiohama Tadashi T Takatani Rieko R Shimojo Naoki N

Human genome variation 20181023

3M syndrome is an autosomal recessive disease characterized by severe pre-natal and post-natal growth retardation, dysmorphic facial features, and skeletal abnormalities. We present a patient with 3M syndrome caused by the compound heterozygous mutations p.Trp68* and p.Gly1452Asp in CUL7, the latter of which is novel, who exhibited a good body height response to growth hormone treatment. These results expand our knowledge of phenotype-genotype correlations in 3M syndrome, including correl ...[more]

PMID: 30374406

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