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Article

Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant.

Scientific reports - 3 Jan 2024

Matsumoto Ayumi, Kano Shintaro, Kobayashi Natsumi, Matsuki Mitsuru, Furukawa Rieko, Yamagishi Hirokazu, Yoshinari Hiroki, Nakata Waka, Wakabayashi Hiroko, Tsuda Hidetoshi, Watanabe Kazuhisa, Takahashi Hironori, Yamagata Takanori, Matsumura Takayoshi, Osaka Hitoshi, Mori Harushi, Iwamoto Sadahiko

Abstract excerpt

Menkes disease is an X-linked disorder of copper metabolism caused by mutations in the ATP7A gene, and female carriers are usually asymptomatic. We describe a 7-month-old female patient with severe intellectual disability, epilepsy, and low levels of serum copper and ceruloplasmin. While heterozygous deletion of exons 16 and 17 of the ATP7A gene was detected in the proband, her mother, and her grandmother, only...

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Identifiers

PMID: 38172222
DOI: 10.1038/s41598-023-50668-2
PMCID: PMC10764769

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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