title: Identification of a novel mutation in the ATP7A gene in a Korean patient with Menkes disease.
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.
authors: Department of Pediatrics, School of Medicine, Konkuk University, Seoul, Korea.
authors: Yong Hyuk
authors: YH
authors: Kim
authors: Ran
authors: R
authors: Lee
authors: Han Wook
authors: HW
authors: Yoo
authors: Mi-Sun
authors: MS
authors: Yum
authors: Sun Hwan
authors: SH
authors: Bae
authors: So Chung
authors: SC
authors: Chung
authors: Yong Mean
authors: YM
authors: Park
authors: Jae Sung
authors: JS
authors: Son
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D027682:Cation Transport Proteins / Q000235:genetics*; D000073840:Copper-Transporting ATPases; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D056910:Republic of Korea; D012640:Seizures / Q000175:diagnosis; D017422:Sequence Analysis, DNA; D013036:Spasms, Infantile / Q000175:diagnosis
chemical_list: D027682:Cation Transport Proteins; D000251:Adenosine Triphosphatases; C081184:ATP7A protein, human; D000073840:Copper-Transporting ATPases