TGFBR2基因突变致Loeys-Dietz综合征1例报告
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摘要
目的探讨Loeys-Dietz综合征的临床特点及其相关致病基因。方法回顾分析1例Loeys-Dietz综合征患儿的临床资料,并复习相关文献。结果男性患儿,6月龄,面容特殊,双眼内陷、眼距增宽、双眼外斜视、下颌短小,腭弓高、悬雍垂分裂,全身肌张力低,四肢远端关节松弛,指趾细长;生后2周诊断"先天性马蹄内翻足";心脏彩超示主动脉窦瘤形成;基因检测示TGFBR2基因c.1085A>G(p.His362Arg)杂合变异,确诊Loeys-Dietz综合征。结论主动脉瘤形成、眼距过宽以及悬雍垂裂,并结合致病基因突变可确诊Loeys-Dietz综合征。
Objective To explore the clinical characteristics and related pathogenic genes of Loeys-Dietz syndrome.Method The clinical data of Loeys-Dietz syndrome in a child were retrospectively analyzed and the related literature was reviewed. Results A 6-month-old boy was characterized with special facial features(enophthalmos, hypertelorism, exotropia,short mandible, high palatal arch and bifid uvula) and other features(lower muscular tension, relaxed distal joints and spiderlike fingers/toes). He was diagnosed with talipes equinovarus 2 weeks after birth. Color Doppler echocardiography indicated the formation of aortic sinus aneurysm, and gene detection showed the heterozygous variation of c. 1085 A>G(p.His 362 Arg) in TGFBR2 gene. The diagnosis of Loeys-Dietz syndrome was confirmed. Conclusion Loeys-dietz syndrome can be diagnosed based on the aortic aneurysm formation, hypertelorism and bifid uvula, combined with pathogenic gene mutation.
Objective To explore the clinical characteristics and related pathogenic genes of Loeys-Dietz syndrome.Method The clinical data of Loeys-Dietz syndrome in a child were retrospectively analyzed and the related literature was reviewed. Results A 6-month-old boy was characterized with special facial features(enophthalmos, hypertelorism, exotropia,short mandible, high palatal arch and bifid uvula) and other features(lower muscular tension, relaxed distal joints and spiderlike fingers/toes). He was diagnosed with talipes equinovarus 2 weeks after birth. Color Doppler echocardiography indicated the formation of aortic sinus aneurysm, and gene detection showed the heterozygous variation of c. 1085 A>G(p.His 362 Arg) in TGFBR2 gene. The diagnosis of Loeys-Dietz syndrome was confirmed. Conclusion Loeys-dietz syndrome can be diagnosed based on the aortic aneurysm formation, hypertelorism and bifid uvula, combined with pathogenic gene mutation.
引文
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[4]Loeys BL,Dietz HC.Loeys-dietz syndrome[M]//GeneReviews?[2019-01-10].University of Washington,Seattle,2018.
[5]van de Laar IM,Oldenburg RA,Pals G,et al.Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis[J].Nat genet,2011,43(2):121-126.
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[8]Aburawi EH,O'sullivan J.Relation of aortic root dilatation and age in Marfan's syndrome[J].Eur Heart J,2007,28(3):376-379.
[9]Yetman AT,Beroukhim RS,Ivy DD,et al.Importance of the clinical recognition of Loeys-Dietz syndrome in the neonatal period[J].Pediatrics,2007,119(5):e1199-e1202.
[10]Muramatsu Y,Kosho T,Magota M,et al.Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B[J].Am J Med Genet A,2010,152A(2):417-421.
[11]Viassolo V,Lituania M,Marasini M,et al.Fetal aortic root dilation:a prenatal feature of the Loeys-Dietz syndrome[J].Prenat Diagn,2006,26(11):1081-1083.
[2]李军,赖颢,王春生.Loeys-Dietz综合征与主动脉疾病[J].中华胸心血管外科杂志,2013,29(12):730-733.
[3]Loeys BL,Chen J,Neptune ER,et a1.A syndrome of altered cardiovascular,craniofacial,neurocognitive and skeletal development caused by mutations in TGFBRl or TGFBR2[J].Nat Genet,2005,37(3):275-281.
[4]Loeys BL,Dietz HC.Loeys-dietz syndrome[M]//GeneReviews?[2019-01-10].University of Washington,Seattle,2018.
[5]van de Laar IM,Oldenburg RA,Pals G,et al.Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis[J].Nat genet,2011,43(2):121-126.
[6]Cannaerts E,van de Beek G,Verstraeten A,et al.TGF-βsignalopathies as a paradigm for translational medicine[J].Eur J Med Genet,2015,58(12):695-703.
[7]Mac Carrick G,Black JH 3rd,Bowdin S,et al.Loeys-Dietz syndrome:a primer for diagnosis and management[J].Genet Med,2014,16(8):576-587.
[8]Aburawi EH,O'sullivan J.Relation of aortic root dilatation and age in Marfan's syndrome[J].Eur Heart J,2007,28(3):376-379.
[9]Yetman AT,Beroukhim RS,Ivy DD,et al.Importance of the clinical recognition of Loeys-Dietz syndrome in the neonatal period[J].Pediatrics,2007,119(5):e1199-e1202.
[10]Muramatsu Y,Kosho T,Magota M,et al.Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B[J].Am J Med Genet A,2010,152A(2):417-421.
[11]Viassolo V,Lituania M,Marasini M,et al.Fetal aortic root dilation:a prenatal feature of the Loeys-Dietz syndrome[J].Prenat Diagn,2006,26(11):1081-1083.