Otizm ile takip edilen nadir bir kas-göz –beyin hastalığı tanısı alan iki kardeş: B3GALNT2 gen mutasyonu
Abstract
Beta-1,3-N-acetylgalactosaminiltransferase 2 (B3GALNT2) geni alfa distroglikonopatiler (a-DGP) içinde yer alan ve hastalığa sebep olan genlerden biridir. Distroglikanların O-glukolizasyonundan sorumlu olan tek tip karbonhidrat yapısını oluşturan, nitroasetilgalaktozamin-b-1,3-nitroasetilglukozamini (GalNAc-b-1–3GlcNAc) oluşturan enzimi kodlayan gendir. Bu yazıda çocuk psikiyatri kliniğinde uzun süreler otizm nedeni ile takip edilen, çocuk metabolizma bölümünün de araştırdığı ve sonrasında kas-göz-beyin hastalığının da nadir bir sebebi olan B3GALNT2 gen mutasyonu saptanan iki kardeş vaka sunuldu. Kognitif gerilik özellikle de dil alanında geriliği olan, otizm bulguları bulunan hastalarda kreatin kinaz değerlerine mutlaka dikkat edilmeli ve sınırda olsa yükseklik var ve beyin manyetik rezonans görüntülemede (MRG) lökodistrofik değişiklikler eşlik ediyorsa bu hastalarda Beta-1,3-N-acetylgalactosaminiltransferase 2 (B3GALNT2) gen mutasyonu saptanma olasılığı akılda tutulmalıdır.
Keywords
References
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Abstract
References
- 1. Pini A, Merlini L, Tome FM et al. Merosin-negative congenital muscular dystrophy, occipital epilepsy with periodic spasms and focal cortical dysplasia. Report of three Italian cases in two families. Brain Dev. 1996;18: 316.
- 2. Messina S, Bruno C, Moroni I, et al. Congenital muscular dystrophies with cognitive impairment. A population study. Neurology. 2010;75: 898.
- 3. Chen XY, Song DY, Fan YB, et al. Novel mutations in B3GALNT2 gene causing α-dystroglycanopathy in Chinese patients. Chinese Medical Journal. 2021;134:1483-1485.
- 4. Hedberg C, Oldfors A, Darin N. B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations. European Journal of Human Genetics. 2014;22: 707-710.
- 5. Maroofian R, Riemersma M, Jae LT et al. B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype– phenotype associations in the muscular dystrophy- dystroglycanopathies. Genome Medicine. 2017;9: 118.
- 6. Steven E, Carss KJ, Cirak S et al. Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan. Am J Hum Genet. 2013;92;(3): 354-365
Details
| Primary Language | Turkish |
|---|---|
| Subjects | Health Care Administration |
| Journal Section | Sözlü Bildiriler |
| Authors | |
| Publication Date | June 30, 2022 |
| Submission Date | February 9, 2022 |
| Acceptance Date | March 10, 2022 |
| Published in Issue | Year 2022 Volume: 15 Issue: (Özel Sayı-1) 21. Mersin Pediatri Günleri Bildiri Kitabı |
Cite
MEU Journal of Health Sciences Assoc was began to the publishing process in 2008 under the supervision of Assoc. Prof. Gönül Aslan, Editor-in-Chief, and affiliated to Mersin University Institute of Health Sciences. In March 2015, Prof. Dr. Caferi Tayyar Şaşmaz undertook the Editor-in Chief position and since then he has been in charge.
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