A novel two-nucleotide deletion in the ATP7A gene associated with delayed infantile onset of Menkes disease.

ABSTRACT:

Background

Determining the relationship between clinical phenotype and genotype in genetic diseases is important in clinical practice. In general, frameshift mutations are expected to produce premature termination codons, leading to production of mutant transcripts destined for degradation by nonsense-mediated decay. In X-linked recessive diseases, male patients with frameshift mutations typically have a severe or even lethal phenotype.

Patient

We report a case of a 17-month-old boy with Menkes disease (NIM #309400), an X-linked recessive copper metabolism disorder caused by mutations in the ATP7A copper transporter gene. He exhibited an unexpectedly late onset and experienced milder symptoms.

Study and result

His genomic DNA showed a de novo two-nucleotide deletion i

SUBMITTER: Wada T 

PROVIDER: S-EPMC3959660 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature