Identification of a Novel Mutation in the ATP7A Gene in a Korean Patient with Menkes Disease.
10.3346/jkms.2011.26.7.951
- Author:
Yong Hyuk KIM
1
;
Ran LEE
;
Han Wook YOO
;
Mi Sun YUM
;
Sun Hwan BAE
;
So Chung CHUNG
;
Yong Mean PARK
;
Jae Sung SON
Author Information
1. Department of Pediatrics, School of Medicine, Konkuk University, Seoul, Korea. leeran67@kuh.ac.kr
- Publication Type:Case Report
- Keywords:
Menkes Disease;
MNK Gene;
ATP7A Mutation
- MeSH:
Adenosine Triphosphatases/*genetics;
Asian Continental Ancestry Group/*genetics;
Cation Transport Proteins/*genetics;
Humans;
Infant;
Magnetic Resonance Imaging;
Male;
Menkes Kinky Hair Syndrome/*diagnosis/genetics;
Mutation;
Republic of Korea;
Seizures/diagnosis;
Sequence Analysis, DNA;
Spasms, Infantile/diagnosis
- From:Journal of Korean Medical Science
2011;26(7):951-953
- CountryRepublic of Korea
- Language:English
-
Abstract:
Menkes disease is an infantile-onset X-linked recessive neurodegenerative disorder caused by diverse mutations in a copper-transport gene, ATP7A. Affected patients are characterized by progressive hypotonia, seizures, failure to thrive and death in early childhood. Here, we report a case of Menkes disease presented by intractable seizures and infantile spasms. A 3-month-old male infant had visited our pediatric clinic for lethargy, floppy muscle tone, poor oral intake and partial seizures. His hair was kinky, brown colored and fragile. Partial seizures became more frequent, generalized and intractable to antiseizure medications. An EEG showed frequent posteriorly dominant generalized spikes that were consistent with a generalized seizure. From a genetic analysis, a c.2743C>T (p.Gln915X) mutation was detected and diagnosed as Menkes disease. The mutation is a novel one that has not been previously reported as a cause of Menkes disease.
