What question did this study set out to answer?

To identify and characterize pathogenic mutations and polymorphisms in the ATP7A gene among individuals with Menkes disease and occipital horn syndrome.

March 15, 2001American Journal of Medical Genetics

ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome

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Authors

YGYan‐Hong GuFudan University HKHiroko KodamaTeikyo Heisei University YMYoshiko MurataSuntory Foundation for Life Sciences

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Implication

Genetic analysis reveals diverse functional ATP7A mutations in males with Menkes disease and occipital horn syndrome, indicating residual normal transcripts drive milder clinical phenotypes.

Key Points

To identify and characterize pathogenic mutations and polymorphisms in the ATP7A gene among individuals with Menkes disease and occipital horn syndrome.
Analyzed genomic DNA from 17 Japanese males with Menkes disease, 2 Japanese males with occipital horn syndrome, and 20 normal individuals.
Amplified the exons and 5'-upstream region of ATP7A using PCR, followed by single-strand conformation polymorphism (SSCP) analysis and direct DNA sequencing.
Evaluated transcript sizes, relative expression levels, and copper concentrations in cultured skin fibroblasts from an individual with occipital horn syndrome.
Identified 16 distinct functional mutations across 16 of 17 males with Menkes disease, comprising 4 deletions, 2 insertions, 6 nonsense mutations, 2 missense mutations, and 2 splice-site mutations.
Detected an intron 6 splice-site mutation in one occipital horn syndrome patient producing 19% normal-size transcripts in fibroblasts, explaining normal serum copper levels and mild clinical symptoms despite cellular copper accumulation.
Identified 25 polymorphisms across the exons and 5'-upstream region of the ATP7A gene among the 19 affected males and 20 normal controls.

Cite This Study

Gu et al. (2001) studied this question.

synapsesocial.com/papers/6a88400686ac178e8f60909c https://doi.org/10.1002/1096-8628(2001)9999:9999<::aid-ajmg1167>3.0.co;2-r

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Implication

Genetic analysis reveals diverse functional ATP7A mutations in males with Menkes disease and occipital horn syndrome, indicating residual normal transcripts drive milder clinical phenotypes.

ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome

Discussion

Member takes

Implication

Key Points

Cite This Study

ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome

Discussion

Member takes

Implication

Key Points

Cite This Study

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