De novo mutation in ATP7A gene with severe menkes disease
Erciyes Medical Journal, cilt.40, sa.2, ss.99-102, 2018 (Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 40 Sayı: 2
- Basım Tarihi: 2018
- Doi Numarası: 10.5152/etd.2018.0103
- Dergi Adı: Erciyes Medical Journal
- Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.99-102
- Anahtar Kelimeler: ATP7A, De Novo Mutation, Menkes Disease
- Sağlık Bilimleri Üniversitesi Adresli: Evet
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 verte-brobasilar 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.