3MC sendromu: Bir olgu sunumu

Year 2019, , 107 - 109, 01.08.2019

Seda Çakmaklı , Yaşar Kandur

https://doi.org/10.25000/acem.505975

Cited By: 3

Abstract

3MC sendromu tipik yüz bulguları,
yarık dudak/damak, boy kısalığı, gelişme geriliği, umblikal defekt, genitoüriner
ve sakral anomaliler ile seyreden, nadir görülen, otozomal resesif geçiş
gösteren bir sendromdur. 3MC sendromlu hastalarda, doğal immun sistemin lektin
kompleman yolağında görev alan proteinleri kodlayan MASP1, COLEC11 ve
COLEC10 genlerinde mutasyonlar saptanmıştır.

Bu yazıda, MASP1 geni mutasyon analizi ile tanısı doğrulanan 3MC
sendromlu 2 yaşındaki bir erkek hasta sunulmuştur. 

Keywords

3MC sendromu, MASP1, COLEC11, COLEC10, blefaroptozis, epikantus inversus

3MC syndrome: A case report

Abstract

3MC syndrome is a
rare autosomal recessive disorder associated with distinctive facial features,
cleft lip/palate, short stature, developmental delay, periumbilical defects,
genitourinary and sacral anomalies. Mutations in the genes which encode
proteins involved in the lectin complement pathway of innate immune system;
MASP1, COLEC11 and COLEC10 have been identified in patients with 3MC syndrome.

We report a 2-year-old
male patient with
3MC syndrome; in whom diagnosis was confirmed by mutation analysis of the MASP1
gene.

Keywords

3MC syndrome, MASP1, COLEC11, COLEC10, blepharophytosis, epicanthus inversus

References

• 1. Carnevale F, Krajewska G, Fischetto R, Greco MG, Bonvino A. Ptosis of eyelids, strabismus, diastasis recti, hip defect, cryptorchidism, and developmental delay in two sibs. Am J Med Genet. 1989;33:186-9.
• 2. Mingarelli R, Scanderbeg AC, Dallapiccola B. Two sisters with a syndrome of ocular, skeletal, and abdominal abnormalities (OSA syndrome). J Med Genet. 1996;33:884-6.
• 3. Malpuech G, Demeocq F, Palcoux J, Vanlieferinghen P, Opitz JM. A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with growth failure, lip/palate cleft (s), and urogenital anomalies. Am J Med Genet. 1983;16:475-80.
• 4. Michels VV, Hittner HM, Beaudet AL. A clefting syndrome with ocular anterior chamber defect and lid anomalies. J Pediatr. 1978;93:444-6.
• 5. Priolo M, Ciccone R, Bova I, Campolo G, Laganà C, Zuffardi O. Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH. Eur J Med Genet. 2007;50:139-43.
• 6. Degn SE, Jensenius JC, Thiel S. Disease-causing mutations in genes of the complement system. Am J Hum Genet. 2011;88:689-705.
• 7. Rooryck C, Diaz-Font A, Osborn DP, Chabchoub E, Hernandez-Hernandez V, Shamseldin H, et al. Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. Nature Genet. 2011;43:197.
• 8. Sirmaci A, Walsh T, Akay H, Spiliopoulos M, Şakalar YB, Hasanefendioğlu-Bayrak A, et al. MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes. Am J Med Genet. 2010;87:679-86.
• 9. Munye MM, Diaz-Font A, Ocaka L, Henriksen ML, Lees M, Brady A, et al. COLEC10 is mutated in 3MC patients and regulates early craniofacial development. PLoS Genet. 2017;13:e1006679.
• 10. Atik T, Koparir A, Bademci G, Foster J, Altunoglu U, Mutlu GY, et al. Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome. Orphanet J Rare Dis. 2015;10:128.
• 11. Degn SE, Jensen L, Hansen AG, Duman D, Tekin M, Jensenius JC, et al. Mannan-binding lectin-associated serine protease (MASP)-1 is crucial for lectin pathway activation in human serum, whereas neither MASP-1 nor MASP-3 is required for alternative pathway function. J Immunol. 2012;189:3957-69.
• 12. Zerbino DR, Achuthan P, Akanni W, Amode MR, Barrell D, Bhai J, et al. Ensembl 2018. Nucleic Acids Res. 2017;46:D754-D61.
• 13. Urquhart J, Roberts R, de Silva D, Shalev S, Chervinsky E, Nampoothiri S, et al. Exploring the genetic basis of 3MC syndrome: Findings in 12 further families. Am J Med Genet A. 2016;170:1216-24.
• 14. Titomanlio L, Bennaceur S, Bremond‐Gignac D, Baumann C, Dupuy O, Verloes A. Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)? Am J Med Genet A. 2005;137:332-5.
• 15. Leal GF, Silva EO, Duarte AR, Campos JF. Blepharophimosis, blepharoptosis, defects of the anterior chamber of the eye, caudal appendage, radioulnar synostosis, hearing loss and umbilical anomalies in sibs: 3MC syndrome? Am J Med Genet A. 2008;146:1059-62.
• 16. Gardner OK, Haynes K, Schweitzer D, Johns A, Magee WP, Urata MM, et al. Familial recurrence of 3MC syndrome in consanguineous families: A clinical and molecular diagnostic approach with review of the literature. Cleft Palate Craniofac J. 2017;54:739-48.
• 17. Basdemirci M, Sen A, Ceylaner S. Novel mutation in MASP1 gene in a new family with 3MC syndrome. Clin Dysmorphol. 2019;28:91-3.
• 18. Graul-Neumann LM, Mensah MA, Klopocki E, Uebe S, Ekici AB, Thiel CT, et al. Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome. Eur J Med Genet. 2018;61:363-8.