A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome

Aydogan, Muzeyyen; Odaman Al, Işık; yıldız, melek; ERSOY, Gizem; ÖNAL, Hasan; Gezdirici, Alper; Şalcıoğlu, Zafer; TAHTAKESEN, Tuba Nur; AYDIN, Banu Küçükemre

doi:10.24953/turkjped.2019.02.015

A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome

Işık Odaman Al, (Kanuni Sultan Süleyman Eğitim ve Araştırma Hastanesi, İstanbul, Türkiye)

Alper Gezdirici, (Kanuni Sultan Süleyman Eğitim ve Araştırma Hastanesi, İstanbul, Türkiye)

Melek Yıldız, (Kanuni Sultan Süleyman Eğitim ve Araştırma Hastanesi, İstanbul, Türkiye)

Gizem Ersoy, (Kanuni Sultan Süleyman Eğitim ve Araştırma Hastanesi, İstanbul, Türkiye)

Gönül Aydoğan, (Kanuni Sultan Süleyman Eğitim ve Araştırma Hastanesi, İstanbul, Türkiye)

Zafer SALCIOĞLU, (Kanuni Sultan Süleyman Eğitim ve Araştırma Hastanesi, İstanbul, Türkiye)

Tuba Nur Tahtakesen, (Kanuni Sultan Süleyman Eğitim ve Araştırma Hastanesi, İstanbul, Türkiye)

Hasan Önal, (Kanuni Sultan Süleyman Eğitim ve Araştırma Hastanesi, İstanbul, Türkiye)

Banu Küçükemre Aydın (Kanuni Sultan Süleyman Eğitim ve Araştırma Hastanesi, İstanbul, Türkiye)

Turkish Journal of Pediatrics

1 1

Yıl: 2019 Cilt: 61 Sayı: 2 Sayfa Aralığı: 257 - 260 Metin Dili: İngilizce DOI: 10.24953/turkjped.2019.02.015 İndeks Tarihi: 06-08-2020

A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome

Öz:

Thiamine-responsive megaloblastic anemia (TRMA) is a very rare syndromecharacterized by the triad of early onset megaloblastic anemia, sensorineuraldeafness and diabetes mellitus. Here we report, a 5-year-old boy whopresented with transfusion dependent anemia and diabetes mellitus and wasdiagnosed with TRMA. Besides reporting a novel mutation of the causativegene SLC19A2, we wanted to emphasize this syndrome in the aspect ofcoexistence of insulin dependent diabetes, transfusion dependent anemia andthrombocytopenia.

Anahtar Kelime:

Belge Türü: Makale Makale Türü: Olgu Sunumu Erişim Türü: Erişime Açık

1. Rogers E, Porter SF, Sidbury JR. Thiamine responsive megaloblastic anemia. J Pediatr 1969; 74: 499-504.
2. Yesilkaya E, Bideci A, Temizkan M, et al. A novel mutation in the SLC19A2 gene in a Turkish female with thiamine-responsive megaloblastic anemia syndrome. J Trop Pediatr 2009; 55: 265-267.
3. Ozdemir MA, Akcakus M, Kurtoglu S, Gunes T, Torun YA. TRMA syndrome (thiamine-responsive megaloblastic anemia): A case report and review of the literature. Pediatr Diabetes 2002; 3: 205-209.
4. Fleming JC, Tartaglini E, Steinkamp MP, Schorderet DF, Cohen N, Neufeld EJ. The gene mutated in thiamineresponsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter. Nat Genet 1999; 22: 305-308.
5. Labay V, Raz T, Baron D, et al. Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness. Nat Genet 1999; 22: 300-304.
6. Tahir S, Leijssen LGJ, Sherif M, Pereira C, Morais A, Hussain K. A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia. Int J Pediatr Endocrinol 2015; 2015: 6.
7. Mozzillo E, Melis D, Falco M, et al. Thiamine responsive megaloblastic anemia: a novel SLC19A2 compound heterozygous mutation in two siblings. Pediatr Diabetes 2013; 14: 384-387.
8. Akın L, Kurtoğlu S, Kendirci M, Akın MA, Karakük M. Does early treatment prevent deafness in thiamineresponsive megaloblastic anaemia syndrome? J Clin Res Ped Endocrinol 2011; 3: 36-39.
9. Brown G. Defects of thiamine transport and metabolism. J Inherit Metab Dis 2014; 37: 577-585.
10. Stenson PD, Ball EV, Mort M, et al. Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat 2003; 21: 577-581. 11. Bazarbachi A, Muakkit S, Ayas M, et al. Thiamineresponsive myelodysplasia. Br J Haematol 1998; 102: 1098-1100. 12. Neufeld EJ, Mandel H, Raz T, et al. Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping. Am J Hum Genet 1997; 61: 1335-1341. 13. Ricketts CJ, Minton JA, Samuel J, et al. Thiamineresponsive megaloblastic anemia syndrome: long-term follow-up and mutation analysis of seven families. Acta Paediatr 2006; 95: 99-104. 14. Yilmaz Y, Aydın BK, Baş F, et al. A thiamine responsive megaloblastic anemia presented with hypertriglyceridemia and auto-immune diabetes. Exp Clin Endocrinol Diabetes Rep 2015; 2: e8-e10. 15. Onal H, Baris S, Ozdil M, et al. Thiamine-responsive megaloblastic anemia: Early diagnosis may be effective in preventing deafness. Turk J Pediatr 2009; 51: 301- 304.

APA	Odaman Al I, Gezdirici A, yıldız m, ERSOY G, Aydogan M, Şalcıoğlu Z, TAHTAKESEN T, ÖNAL H, AYDIN B (2019). A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome. , 257 - 260. 10.24953/turkjped.2019.02.015
Chicago	Odaman Al Işık,Gezdirici Alper,yıldız melek,ERSOY Gizem,Aydogan Muzeyyen,Şalcıoğlu Zafer,TAHTAKESEN Tuba Nur,ÖNAL Hasan,AYDIN Banu Küçükemre A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome. (2019): 257 - 260. 10.24953/turkjped.2019.02.015
MLA	Odaman Al Işık,Gezdirici Alper,yıldız melek,ERSOY Gizem,Aydogan Muzeyyen,Şalcıoğlu Zafer,TAHTAKESEN Tuba Nur,ÖNAL Hasan,AYDIN Banu Küçükemre A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome. , 2019, ss.257 - 260. 10.24953/turkjped.2019.02.015
AMA	Odaman Al I,Gezdirici A,yıldız m,ERSOY G,Aydogan M,Şalcıoğlu Z,TAHTAKESEN T,ÖNAL H,AYDIN B A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome. . 2019; 257 - 260. 10.24953/turkjped.2019.02.015
Vancouver	Odaman Al I,Gezdirici A,yıldız m,ERSOY G,Aydogan M,Şalcıoğlu Z,TAHTAKESEN T,ÖNAL H,AYDIN B A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome. . 2019; 257 - 260. 10.24953/turkjped.2019.02.015
IEEE	Odaman Al I,Gezdirici A,yıldız m,ERSOY G,Aydogan M,Şalcıoğlu Z,TAHTAKESEN T,ÖNAL H,AYDIN B "A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome." , ss.257 - 260, 2019. 10.24953/turkjped.2019.02.015
ISNAD	Odaman Al, Işık vd. "A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome". (2019), 257-260. https://doi.org/10.24953/turkjped.2019.02.015

APA	Odaman Al I, Gezdirici A, yıldız m, ERSOY G, Aydogan M, Şalcıoğlu Z, TAHTAKESEN T, ÖNAL H, AYDIN B (2019). A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome. Turkish Journal of Pediatrics, 61(2), 257 - 260. 10.24953/turkjped.2019.02.015
Chicago	Odaman Al Işık,Gezdirici Alper,yıldız melek,ERSOY Gizem,Aydogan Muzeyyen,Şalcıoğlu Zafer,TAHTAKESEN Tuba Nur,ÖNAL Hasan,AYDIN Banu Küçükemre A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome. Turkish Journal of Pediatrics 61, no.2 (2019): 257 - 260. 10.24953/turkjped.2019.02.015
MLA	Odaman Al Işık,Gezdirici Alper,yıldız melek,ERSOY Gizem,Aydogan Muzeyyen,Şalcıoğlu Zafer,TAHTAKESEN Tuba Nur,ÖNAL Hasan,AYDIN Banu Küçükemre A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome. Turkish Journal of Pediatrics, vol.61, no.2, 2019, ss.257 - 260. 10.24953/turkjped.2019.02.015
AMA	Odaman Al I,Gezdirici A,yıldız m,ERSOY G,Aydogan M,Şalcıoğlu Z,TAHTAKESEN T,ÖNAL H,AYDIN B A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome. Turkish Journal of Pediatrics. 2019; 61(2): 257 - 260. 10.24953/turkjped.2019.02.015
Vancouver	Odaman Al I,Gezdirici A,yıldız m,ERSOY G,Aydogan M,Şalcıoğlu Z,TAHTAKESEN T,ÖNAL H,AYDIN B A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome. Turkish Journal of Pediatrics. 2019; 61(2): 257 - 260. 10.24953/turkjped.2019.02.015
IEEE	Odaman Al I,Gezdirici A,yıldız m,ERSOY G,Aydogan M,Şalcıoğlu Z,TAHTAKESEN T,ÖNAL H,AYDIN B "A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome." Turkish Journal of Pediatrics, 61, ss.257 - 260, 2019. 10.24953/turkjped.2019.02.015
ISNAD	Odaman Al, Işık vd. "A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome". Turkish Journal of Pediatrics 61/2 (2019), 257-260. https://doi.org/10.24953/turkjped.2019.02.015