EP300 基因突变导致婴儿 Rubinstein-Taybi 综合征 1 例及文献复习
摘要
染住院 2 次母亲孕期合并先兆子痫。体格检查发现生长发育落后鼻中隔呈 S 型偏曲小下颌高腭弓舌后缀会咽
谷狭窄耳位偏低伴有间断性喉喘鸣。全外显子组测序结果为 EP300 基因 c.4879C>T 位点杂合突变诊断 RubinsteinTaybi 综合征RSTS。住院期间予鼻饲管置管、抗感染等治疗 1 周后出院。对于有面容异常、喂养困难、发育迟缓者应
尽早进行基因检测明确诊断。
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[1]Richards S, Aziz N, Bale S, et al. Standards and guidelines
for the interpretation of sequence variants: a joint consensus
recommendation of the American College of Medical Genetics and
Genomics and the Association for Molecular Pathology[J]. Genet
Med. 2015;17(5):405-424.
[2] 唐芳 , 李中会 , 程昕然 , 等 . 两例 Rubinstein‐Taybi
综合征患儿的临床及遗传学分析 [J]. 中华医学遗传学杂
志 ,2019,(9): 886‐889.
[3] 唐琴琴 , 徐丁 , 王凡 , 等 . 新生儿 Rubinstein‐Taybi
综合征一例 [J]. 中华新生儿科杂志 ,2019,(2):141-142.
[4] 李风侠 , 叶雯 , 张晶 , 等 .Rubinstein‐Taybi 综合征一
例 [J]. 中华 医学遗传学杂志 ,2018,35(3):463-464.
[5]Hennekam RC. Rubinstein-Taybi syndrome[J]. Eur J Hum
Genet. 2006;14(9):981-985. DOI:10.1038/sj.ejhg.5201594.
[6]Roelfsema JH, Peters DJ. Rubinstein-Taybi syndrome:
clinical and molecular overview[J]. Expert Rev Mol Med.
2007;9(23):1-16.
[7]Lopez-Atalaya JP, Valor LM, Barco A. Epigenetic
factors in intellectual disability: the Rubinstein-Taybi syndrome
as a paradigm of neurodevelopmental disorder with epigenetic
origin[J]. Prog Mol Biol Transl Sci. 2014;128:139-176.
[8]Hutchinson DT, Sullivan R. Rubinstein-Taybi
Syndrome[J]. J Hand Surg Am. 2015;40(8):1711-1712.
[9]López M, García-Oguiza A, Armstrong J, et al.
Rubinstein-Taybi 2 associated to novel EP300 mutations:
deepening the clinical and genetic spectrum[J]. BMC Med Genet.
2018;19(1):36.
[10]Bartsch O, Labonté J, Albrecht B, et al. Two patients
with EP300 mutations and facial dysmorphism different from
the classic Rubinstein-Taybi syndrome[J]. Am J Med Genet A.
2010;152A(1):181-184.
[11]Al-Qattan MM, Jarman A, Rafique A, Al-Hassnan ZN,
Al-Qattan HM. Rubinstein-Taybi syndrome in a Saudi boy with
distinct features and variants in both the CREBBP and EP300
genes: a case report[J]. BMC Med Genet. 2019;20(1):12.
[12]Fergelot P, Van Belzen M, Van Gils J, et al.
Phenotype and genotype in 52 patients with Rubinstein-Taybi
syndrome caused by EP300 mutations[J]. Am J Med Genet A.
2016;170(12):3069-3082.
[13]Van Gils J, Magdinier F, Fergelot P, Lacombe D.
Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder[J].
Genes (Basel). 2021;12(7):968. DOI:10.3390/genes12070968.
[14]Ravella R, George P. Rubinstein-Taybi syndrome[J].
Indian J Med Res. 2020;152(Suppl 1):S236-S237.
[15]Milani D, Manzoni FM, Pezzani L, et al. Rubinstein-
Taybi syndrome: clinical features, genetic basis, diagnosis, and
management[J]. Ital J Pediatr. 2015;41:4.
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