De Novo Mutation in ATP7A Gene with Severe Menkes Disease

Objective & Hypothesis:Menkes disease (MD) is an X-linked neurodegenerative disorder, which occurs in early infancy, and is caused by the impairment of P-type ATPase.

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Key Findings & Data:An 8-month-old boy presented with seizure and difficulty of feeding.

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Conclusion & Impact:Since it is a fatal neurodegenerative disorder, genetic counseling must be provided to the family.

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:Domain Parameters

Özet

Menkes disease (MD) is an X-linked neurodegenerative disorder, which occurs in early infancy, and is caused by the impairment of P-type ATPase. An 8-month-old boy presented with seizure and difficulty of feeding. His hair was blond, thin, and weak. He had poor head control and could not sit. The microscopic appearance of the patient’s hair was pili torti. Brain magnetic resonance imaging revealed diffuse cerebral and cerebellar atrophy, and vascular tortuosity was observed in both middle cerebral and vertebrobasilar arteries in magnetic resonance angiography. Molecular genetic analysis was performed for suspected MD and a hemizygous mutation (p. G1118S [c.3352G>A]) was detected in ATP7A gene. Although it is not specific for the disorder, microscopy of the hair allows early diagnosis when the differential diagnosis is broad or other tests are not conclusive. Since it is a fatal neurodegenerative disorder, genetic counseling must be provided to the family.

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Cite This Article

ÜSTKOYUNCU, P. S., GÜVEN, A. S., KİRAZ, A., YILMAZ, A., BOZDEMİR, Ş. E., GÖKAY, S. (2018). De Novo Mutation in ATP7A Gene with Severe Menkes Disease. Erciyes Medical Journal, Cilt: 40 - Sayı: 2, 99–102. https://ajindex.com/articles/192517

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References (4)

Kaler SG. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al. (eds.) GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. 2003 May 9 [updated 2016 Aug 18]. Ojha R, Prasad AN. Menkes disease: what a multidisciplinary approach can do. J Multidiscip Healthc. 2016; 17(9): 371–85.
Rizk T, Mahmoud A, Jamali T, Al-Mubarak S. Menkes Disease Presenting with Epilepsia Partialis Continua. Case Rep Neurol Med. 2014; 2014: 525784. [CrossRef] Craiu D, Kaler S, Craiu M. Role of optic microscopy for early diagnosis of Menkes disease. Rom J Morphol Embryol. 2014; 55(3): 953–56. Tumer Z. An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome. Hum Mutat. 2013; 34(3): 417-29. [CrossRef] Procopis P, Camakaris J, Danks DM. A mild form of Menkes steely hair syndrome. J Pediatr. 1981; 98(1):97-9. [CrossRef] Lin YJ, Ho CS, Hsu CH, Lin JL, Chuang CK, Tsai JD, et al. A Truncating De Novo Point Mutation in a Young Infant with Severe Menkes Disease. Pediatr Neonatol 2014; 58(1): 1-4.
Choi JH, Kim GH, Yoo HW. Identification of novel mutations of the ATP7A gene and prenatal diagnosis of Menkes disease by mutation analysis. J Genet Med 2007; 4(1): 38-44.
Tchan MC, Wilchen B, Christodoulou J. The mild form of Menkes disease: a 34-year progress report on the original case. JIMD Rep 2013; 9: 81–4. [CrossRef] Gu YH, Kodama H, Sato E, Mochizuki D, Yanagawa Y, Takayanagi M, et al. Prenatal diagnosis of Menkes disease by genetic analysis and copper measurement. Brain Dev 2002; 24(7): 715-8. [CrossRef]