Advances in genetic etiology research of congenital chest wall deformity_Chinese Journal of Clinical Thoracic and Cardiovascular Surgery

Authors：

HE Xin ^1,2 , CHEN Nan ^1,2 ,  LIN Feng ¹

1. Department of Thoracic Surgery, West China Hospital, Sichuan University, Chengdu, 610041, P.R.China;
2. West China School of Medicine, Sichuan University, Chengdu, 610041, P.R.China;

Corresponding author：

LIN Feng, Email: linfeng0220@aliyun.com

Keywords：

Congenital chest deformities; genetic etiology; pectus excavatum; pectus carinatum

DOI：

10.7507/1007-4848.201904012

Video：

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Abstract Full text Figures/Tables Video References Cited by

Congenital chest deformity is caused by abnormal development of spine or ribs, resulting in sternal depression or protrusion. Pectus carinatum and pectus excavatum are the most common diseases in clinic, which can either be accompanied by other syndromes or exist alone. The genetic factors of congenital thoracic deformity can be related to single gene mutation, polygene mutation and chromosome aberration. Common clinical congenital thoracic deformity with syndromes, such as Marfan syndrome and Noonan syndrome, often have relatively fixed and clear pathogenic genes. The genetic pathogenesis of non-syndromic and independent congenital thoracic malformations is usually diverse, and treatments for syndromic and non-syndromic congenital thoracic deformity are different. Therefore, it is necessary for us to differentiate syndromic and non-syndromic congenital thoracic deformities in basic research, clinical diagnosis and treatment.

Citation： HE Xin, CHEN Nan, LIN Feng. Advances in genetic etiology research of congenital chest wall deformity. Chinese Journal of Clinical Thoracic and Cardiovascular Surgery, 2020, 27(1): 101-105. doi: 10.7507/1007-4848.201904012 Copy

1.	Choudhury SR. Chest wall deformity. Pediatric Surgery. Singapore: Springer, 2018: 83-85.
2.	Riccipetitoni G, Costanzo S, Destro F. Congenital thoracic deformities. Neonatal Surgery. Springer, Cham, 2019: 117-137.
3.	Dean C, Etienne D, Hindson D, et al. Pectus excavatum (funnel chest): a historical and current prospective. Surg Radiol Anat, 2012, 34(7): 573-579.
4.	Copeland GP, Jones D, Walters M. POSSUM: a scoring system for surgical audit. Br J Surg, 1991, 78(3): 355-360.
5.	Kuru P, Cakiroglu A, Er A, et al. Pectus excavatum and pectus carinatum: associated conditions, family history, and postoperative patient satisfaction. Korean J Thorac Cardiovasc Surg, 2016, 49(1): 29.
6.	Asmar A, Semenov I, Kelly Jr R, et al. Abnormal response of costal chondrocytes to acidosis in patients with chest wall deformity. Exp Mol Pathol, 2019, 106: 27-33.
7.	Dwyer EM, Troncale F. Spontaneous pneumothorax and pulmonary disease in the Marfan syndrome: report of two cases and review of the literature. Ann Intern Med, 1965, 62(6): 1285-1292.
8.	Dietz HC, Pyeritz RE. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Hum Mol Genet, 1995, 4(suppl_1): 1799-1809.
9.	Kainulainen K, Pulkkinen L, Savolainen A, et al. Location on chromosome 15 of the gene defect causing Marfan syndrome. NEJM, 1990, 323(14): 935-939.
10.	Tsipouras P, Del Mastro R, Sarfarazi M, et al. Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. NEJM, 1992, 326(14): 905-909.
11.	Golledge J, Clancy P, Jones GT, et al. Possible association between genetic polymorphisms in transforming growth factor β receptors, serum transforming growth factor β1 concentration and abdominal aortic aneurysm. Br J Surg, 2009, 96(6): 628-632.
12.	Noonan JA. Noonan syndrome: an update and review for the primary pediatrician. Clin Pediatr, 1994, 33(9): 548-555.
13.	Romano AA, Allanson JE, Dahlgren J, et al. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatr, 2010, 126(4): 746-759.
14.	Bentires-Alj M, Paez JG, David FS, et al. Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia. Cancer Res, 2004, 64(24): 8816-8820.
15.	Jorge AA, Malaquias AC, Arnhold IJ, et al. Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway. Horm Res Paediatr, 2009, 71(4): 185-193.
16.	Yart A, Edouard T. Noonan syndrome: an update on growth and development. Curr Opin Endocrinol Diabetes Obes, 2018, 25(1): 67-73.
17.	Forlino A, Marini JC. Osteogenesis imperfecta. Lancet, 2016, 387(10028): 1657-1671.
18.	Vanz AP, van de Sande Lee J, Pinheiro B, et al. Health-related quality of life of children and adolescents with osteogenesis imperfecta: a cross-sectional study using PedsQL^TM. BMC Pediatr, 2018, 18(1): 95.
19.	Sato A, Ouellet J, Muneta T, et al. Scoliosis in osteogenesis imperfecta caused by COL1A1/COL1A2 mutations—genotype–phenotype correlations and effect of bisphosphonate treatment. Bone, 2016, 86: 53-57.
20.	Andersson K, Dahllöf G, Lindahl K, et al. Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta–A retrospective cohort study. PLoS One, 2017, 12(5): e0176466.
21.	Blouin S, Fratzl-Zelman N, Glorieux FH, et al. Hypermineralization and high osteocyte lacunar density in osteogenesis imperfecta type Ⅴ bone indicate exuberant primary bone formation. J Bone Miner Res, 2017, 32(9): 1884-1892.
22.	Benzalim M, Berghalout L, Elfakir S, et al. Poland syndrome: about a case and review of the literature. Pan Afr Med J, 2017, 26: 12.
23.	Baas M, Burger EB, Sneiders D, et al. Controversies in Poland syndrome: alternative diagnoses in patients with congenital pectoral muscle deficiency. J Hand Surg Am, 2018, 43(2): 186.e1-e16.
24.	Abid I, Ewais MM, Marranca J, et al. Pectus excavatum: a review of diagnosis and current treatment options. J Am Osteopath Assoc, 2017, 117(2): 106-113.
25.	Leung AC, Hoo JJ, Reynolds JF. Familial congenital funnel chest. Am J Med Genet Part A, 1987, 26(4): 887-890.
26.	Gips H, Zaitsev K, Hiss J. Cardiac perforation by a pectus bar after surgical correction of pectus excavatum: case report and review of the literature. Pediatr Surg Int, 2008, 24(5): 617-620.
27.	Mak SM, Bhaludin BN, Naaseri S, et al. Imaging of congenital chest wall deformities. Br J Radiol, 2016, 89(1061): 20150595.
28.	de Beer SA, Blom YE, Lopez M, et al. Measured dynamic compression for pectus carinatum: a systematic review. Semin Pediatr Surg, 2018, 27(3): 175-182.
29.	Cobben JM, Oostra RJ, van Dijk FS. Pectus excavatum and carinatum. Eur J Med Genet, 2014, 57(8): 414-417.
30.	Desmarais TJ, Keller MS. Pectus carinatum. Curr Opin Pediatr, 2013, 25(3): 375-381.
31.	Campbell RM Jr, Smith MD, Mayes TC, et al. The characteristics of thoracic insufficiency syndrome associated with fused ribs and congenital scoliosis. J Bone Joint Surg Am, 2003, 85(3): 399-408.
32.	Sáez BJ, Pattillo SJC, and Vuletin SJF. Pleuro-pulmonary blastoma presenting as a chest wall deformity: a case report. Rev Chil Pediatr, 2018, 89(2): 231-235.
33.	Boehme DH, Shotar AO. A complex deformity of appendicular skeleton and shoulder with congenital heart disease in three generations of a Jordanian family. Clin Genet, 1989, 36(6): 442-450.
34.	Creswick HA, Stacey MW, Kelly RE, et al. Family study of the inheritance of pectus excavatum. J Pediatr Surg, 2006, 41(10): 1699-1703.
35.	Fan YS, Jung J, Hamilton B. Small terminal deletion of 1p and duplication of 1q: cytogenetics, FISH studies, and clinical observations at newborn and at age 16 years. Am J Med Genet, 1999, 86(2): 118-123.
36.	de Ravel TJ, Ameye L, Ballon K, et al. Early detection of chromosome 9q22. 32q31. 1 microdeletion and the nevoid basal cell carcinoma syndrome. Eur J Med Genet, 2009, 52(2): 145-147.
37.	Der Kaloustian VM, Russell L, Aradhya S, et al. A de novo 2.1‐Mb deletion of 13q12. 11 in a child with developmental delay and minor dysmorphic features. Am J Med Genet Part A, 2011, 155(10): 2538-2542.
38.	Higashi K, Inoue S. Conductive deafness, symphalangism, and facial abnormalities: the WL syndrome in a Japanese family. Am J Med Genet, 1983, 16(1): 105-109.
39.	Koppe R, Kaplan P, Hunter A, et al. Ambiguous genitalia associated with skeletal abnormalities, cutis laxa, craniostenosis, psychomotor retardation, and facial abnormalities (SCARF syndrome). Am J Med Genet, 1989, 34(3): 305-312.
40.	Tiller GE, Polumbo PA, Weis MA, et al. Dominant mutations in the typeⅡcollagen gene, col2a1, produce spondyloepimetaphyseal dysplasia, Strudwick type. Nat Genet, 1995, 11(1): 87-89.
41.	Chen J, Ma X, Zhou Y, et al. Recurrent C.G1636a (P.G546s) mutation of Col2a1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: A case report. BMC Pediatr, 2017, 17(1): 175.
42.	Kim YE, Park HD, Jang MA, et al. A novel mutation (c.200t>C) in the NAGLU gene of a Korean patient with mucopolysaccharidosis ⅢB. Ann Lab Med, 2013, 33(3): 221-224.
43.	von Oettingen JE, Tan WH, Dauber A. Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-report of the second family with B3GAT3 mutation and expansion of the phenotype. Am J Med Genet, 2014, 164A(6): 1580-1586.
44.	Ho CC, Tsung LL, Liu KT, et al. GNPTAB c. 2404C> T nonsense mutation in a patient with mucolipidosisⅢalpha/beta: a case report. BMC Med Genet, 2018, 19(1): 162.
45.	Robicsek F, Watts LT, Fokin AA. Surgical repair of pectus excavatum and carinatum. Semin Thorac Cardiovasc Surg, 2009, 21(1): 64-75.
46.	Bedetti B, Patrini D, Bertolaccini L, et al. Focus on specific disease-part 2: the European Society of Thoracic Surgery chest wall database. J Thorac Dis, 2018, 10(Suppl 29): S3500.

1. Choudhury SR. Chest wall deformity. Pediatric Surgery. Singapore: Springer, 2018: 83-85.
2. Riccipetitoni G, Costanzo S, Destro F. Congenital thoracic deformities. Neonatal Surgery. Springer, Cham, 2019: 117-137.
3. Dean C, Etienne D, Hindson D, et al. Pectus excavatum (funnel chest): a historical and current prospective. Surg Radiol Anat, 2012, 34(7): 573-579.
4. Copeland GP, Jones D, Walters M. POSSUM: a scoring system for surgical audit. Br J Surg, 1991, 78(3): 355-360.
5. Kuru P, Cakiroglu A, Er A, et al. Pectus excavatum and pectus carinatum: associated conditions, family history, and postoperative patient satisfaction. Korean J Thorac Cardiovasc Surg, 2016, 49(1): 29.
6. Asmar A, Semenov I, Kelly Jr R, et al. Abnormal response of costal chondrocytes to acidosis in patients with chest wall deformity. Exp Mol Pathol, 2019, 106: 27-33.
7. Dwyer EM, Troncale F. Spontaneous pneumothorax and pulmonary disease in the Marfan syndrome: report of two cases and review of the literature. Ann Intern Med, 1965, 62(6): 1285-1292.
8. Dietz HC, Pyeritz RE. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Hum Mol Genet, 1995, 4(suppl_1): 1799-1809.
9. Kainulainen K, Pulkkinen L, Savolainen A, et al. Location on chromosome 15 of the gene defect causing Marfan syndrome. NEJM, 1990, 323(14): 935-939.
10. Tsipouras P, Del Mastro R, Sarfarazi M, et al. Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. NEJM, 1992, 326(14): 905-909.
11. Golledge J, Clancy P, Jones GT, et al. Possible association between genetic polymorphisms in transforming growth factor β receptors, serum transforming growth factor β1 concentration and abdominal aortic aneurysm. Br J Surg, 2009, 96(6): 628-632.
12. Noonan JA. Noonan syndrome: an update and review for the primary pediatrician. Clin Pediatr, 1994, 33(9): 548-555.
13. Romano AA, Allanson JE, Dahlgren J, et al. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatr, 2010, 126(4): 746-759.
14. Bentires-Alj M, Paez JG, David FS, et al. Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia. Cancer Res, 2004, 64(24): 8816-8820.
15. Jorge AA, Malaquias AC, Arnhold IJ, et al. Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway. Horm Res Paediatr, 2009, 71(4): 185-193.
16. Yart A, Edouard T. Noonan syndrome: an update on growth and development. Curr Opin Endocrinol Diabetes Obes, 2018, 25(1): 67-73.
17. Forlino A, Marini JC. Osteogenesis imperfecta. Lancet, 2016, 387(10028): 1657-1671.
18. Vanz AP, van de Sande Lee J, Pinheiro B, et al. Health-related quality of life of children and adolescents with osteogenesis imperfecta: a cross-sectional study using PedsQL^TM. BMC Pediatr, 2018, 18(1): 95.
19. Sato A, Ouellet J, Muneta T, et al. Scoliosis in osteogenesis imperfecta caused by COL1A1/COL1A2 mutations—genotype–phenotype correlations and effect of bisphosphonate treatment. Bone, 2016, 86: 53-57.
20. Andersson K, Dahllöf G, Lindahl K, et al. Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta–A retrospective cohort study. PLoS One, 2017, 12(5): e0176466.
21. Blouin S, Fratzl-Zelman N, Glorieux FH, et al. Hypermineralization and high osteocyte lacunar density in osteogenesis imperfecta type Ⅴ bone indicate exuberant primary bone formation. J Bone Miner Res, 2017, 32(9): 1884-1892.
22. Benzalim M, Berghalout L, Elfakir S, et al. Poland syndrome: about a case and review of the literature. Pan Afr Med J, 2017, 26: 12.
23. Baas M, Burger EB, Sneiders D, et al. Controversies in Poland syndrome: alternative diagnoses in patients with congenital pectoral muscle deficiency. J Hand Surg Am, 2018, 43(2): 186.e1-e16.
24. Abid I, Ewais MM, Marranca J, et al. Pectus excavatum: a review of diagnosis and current treatment options. J Am Osteopath Assoc, 2017, 117(2): 106-113.
25. Leung AC, Hoo JJ, Reynolds JF. Familial congenital funnel chest. Am J Med Genet Part A, 1987, 26(4): 887-890.
26. Gips H, Zaitsev K, Hiss J. Cardiac perforation by a pectus bar after surgical correction of pectus excavatum: case report and review of the literature. Pediatr Surg Int, 2008, 24(5): 617-620.
27. Mak SM, Bhaludin BN, Naaseri S, et al. Imaging of congenital chest wall deformities. Br J Radiol, 2016, 89(1061): 20150595.
28. de Beer SA, Blom YE, Lopez M, et al. Measured dynamic compression for pectus carinatum: a systematic review. Semin Pediatr Surg, 2018, 27(3): 175-182.
29. Cobben JM, Oostra RJ, van Dijk FS. Pectus excavatum and carinatum. Eur J Med Genet, 2014, 57(8): 414-417.
30. Desmarais TJ, Keller MS. Pectus carinatum. Curr Opin Pediatr, 2013, 25(3): 375-381.
31. Campbell RM Jr, Smith MD, Mayes TC, et al. The characteristics of thoracic insufficiency syndrome associated with fused ribs and congenital scoliosis. J Bone Joint Surg Am, 2003, 85(3): 399-408.
32. Sáez BJ, Pattillo SJC, and Vuletin SJF. Pleuro-pulmonary blastoma presenting as a chest wall deformity: a case report. Rev Chil Pediatr, 2018, 89(2): 231-235.
33. Boehme DH, Shotar AO. A complex deformity of appendicular skeleton and shoulder with congenital heart disease in three generations of a Jordanian family. Clin Genet, 1989, 36(6): 442-450.
34. Creswick HA, Stacey MW, Kelly RE, et al. Family study of the inheritance of pectus excavatum. J Pediatr Surg, 2006, 41(10): 1699-1703.
35. Fan YS, Jung J, Hamilton B. Small terminal deletion of 1p and duplication of 1q: cytogenetics, FISH studies, and clinical observations at newborn and at age 16 years. Am J Med Genet, 1999, 86(2): 118-123.
36. de Ravel TJ, Ameye L, Ballon K, et al. Early detection of chromosome 9q22. 32q31. 1 microdeletion and the nevoid basal cell carcinoma syndrome. Eur J Med Genet, 2009, 52(2): 145-147.
37. Der Kaloustian VM, Russell L, Aradhya S, et al. A de novo 2.1‐Mb deletion of 13q12. 11 in a child with developmental delay and minor dysmorphic features. Am J Med Genet Part A, 2011, 155(10): 2538-2542.
38. Higashi K, Inoue S. Conductive deafness, symphalangism, and facial abnormalities: the WL syndrome in a Japanese family. Am J Med Genet, 1983, 16(1): 105-109.
39. Koppe R, Kaplan P, Hunter A, et al. Ambiguous genitalia associated with skeletal abnormalities, cutis laxa, craniostenosis, psychomotor retardation, and facial abnormalities (SCARF syndrome). Am J Med Genet, 1989, 34(3): 305-312.
40. Tiller GE, Polumbo PA, Weis MA, et al. Dominant mutations in the typeⅡcollagen gene, col2a1, produce spondyloepimetaphyseal dysplasia, Strudwick type. Nat Genet, 1995, 11(1): 87-89.
41. Chen J, Ma X, Zhou Y, et al. Recurrent C.G1636a (P.G546s) mutation of Col2a1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: A case report. BMC Pediatr, 2017, 17(1): 175.
42. Kim YE, Park HD, Jang MA, et al. A novel mutation (c.200t>C) in the NAGLU gene of a Korean patient with mucopolysaccharidosis ⅢB. Ann Lab Med, 2013, 33(3): 221-224.
43. von Oettingen JE, Tan WH, Dauber A. Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-report of the second family with B3GAT3 mutation and expansion of the phenotype. Am J Med Genet, 2014, 164A(6): 1580-1586.
44. Ho CC, Tsung LL, Liu KT, et al. GNPTAB c. 2404C> T nonsense mutation in a patient with mucolipidosisⅢalpha/beta: a case report. BMC Med Genet, 2018, 19(1): 162.
45. Robicsek F, Watts LT, Fokin AA. Surgical repair of pectus excavatum and carinatum. Semin Thorac Cardiovasc Surg, 2009, 21(1): 64-75.
46. Bedetti B, Patrini D, Bertolaccini L, et al. Focus on specific disease-part 2: the European Society of Thoracic Surgery chest wall database. J Thorac Dis, 2018, 10(Suppl 29): S3500.

Chinese Journal of Clinical Thoracic and Cardiovascular Surgery

Advances in genetic etiology research of congenital chest wall deformity

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