Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics
Por um escritor misterioso
Last updated 05 julho 2024
![Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics](https://media.springernature.com/m685/springer-static/image/art%3A10.1186%2Fs12920-022-01424-4/MediaObjects/12920_2022_1424_Fig1_HTML.jpg)
Background Rubinstein–Taybi syndrome (RSTS) is an extremely rare autosomal dominant inheritable disorder caused by CREBBP and EP300 mutations, while atypical RSTS harbouring variant from the same genes but not obvious resembling RSTS. There are only a few cases of Menke–Hennekam syndrome (MKHK) with variant of exon 30 or 31 of CREBBP or EP300 gene have been reported that not resembling RSTS recent years. Atypical RSTS cannot be accurately classified as MKHK, nor is it easy to identify the obvious classic characteristics of RSTS. The clinical manifestations and genetic variation of atypical RSTS are not fully understood. Case presentation We present a Chinese core family with a girl had recurrent respiratory tract infection and developmental delay. The patient with language and motor mild development retardation, she has slight abnormal facial features, mild hirsutism and post-axial hexadactylia of left foot. Her cisterna magna is enlarged to connect with the fourth ventricle, and the ventricular system is enlarged. She has a malacia beside the posterior horn of the left lateral ventricle. The patient has primary low immunoglobulin G and A, but her level of immunoglobulin M content in blood is normal. The patient harbors a novel heterozygous frameshift variant of c.2499dupG in exon 14 of EP300 gene, that it is proved to de novo origin. The mutation is judged to be a pathogenic mutation, and it has high-grade pathogenic evidence. Conclusion The clinical and genetic evaluation of this case corroborates that clinical features caused by c.2499dupG in exon 14 of EP300 are less marked than RSTS2 patient although it is difficult to establish an accurate genotype–phenotype correlation. Our additional case also helps to deepen the clinical and genetic spectrum in this disorder. The case provides a novel mutation of EP300 and enriches the phenotypes related with the gene. We have contributed new variation and disease information for guardians and doctors to broaden the knowledge about EP300-RSTS genotype and phenotype, this may contribute to ameliorate the health management of patients and improve the genetic counseling to the families.
![Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics](https://i1.rgstatic.net/publication/311625226_First_case_report_of_inherited_Rubinstein-Taybi_syndrome_associated_with_a_novel_EP300_variant/links/5851832b08ae0c0f321af863/largepreview.png)
PDF) First case report of inherited Rubinstein-Taybi syndrome
![Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics](https://i1.rgstatic.net/publication/344423248_Rubinstein-Taybi_syndrome_in_diverse_populations/links/6072a37ba6fdcc5f7798497a/largepreview.png)
PDF) Rubinstein-Taybi syndrome in diverse populations
![Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics](https://media.springernature.com/m685/springer-static/image/art%3A10.1007%2Fs12031-020-01681-x/MediaObjects/12031_2020_1681_Fig1_HTML.jpg)
A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with
![Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics](https://jmg.bmj.com/content/jmedgenet/39/7/496/F2.large.jpg)
Molecular studies in 10 cases of Rubinstein-Taybi syndrome
![Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics](https://europepmc.org/articles/PMC4918723/bin/10-1055-s-0035-1564571-i1508-2.jpg)
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
![Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics](https://www.researchgate.net/profile/Deborah-Bartholdi-2/publication/6581909/figure/fig2/AS:601779804848147@1520486894787/Patient-2-A-B-downslanting-palpebral-fissures-strabismus-long-eyelashes-sharp-nose_Q320.jpg)
PDF) Genetic heterogeneity in Rubinstein-Taybi syndrome
![Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics](https://www.frontiersin.org/files/Articles/848879/fgene-13-848879-HTML-r1/image_m/fgene-13-848879-g002.jpg)
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With
![Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics](https://www.researchgate.net/publication/368572769/figure/fig3/AS:11431281120695731@1676603654659/Distribution-of-EP300-domains-and-mutations-in-our-patient-in-red-arrow-versus-in_Q320.jpg)
Distribution of EP300 domains and mutations in our patient (in red
![Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics](https://media.springernature.com/m685/springer-static/image/art%3A10.1007%2Fs00018-020-03714-5/MediaObjects/18_2020_3714_Fig1_HTML.png)
The emerging role of chromatin remodelers in neurodevelopmental
![Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics](https://media.springernature.com/m685/springer-static/image/art%3A10.1186%2Fs12881-019-0747-5/MediaObjects/12881_2019_747_Fig5_HTML.png)
Rubinstein-Taybi syndrome in a Saudi boy with distinct features
Recomendado para você
-
Forgotten Diseases Research Foundation05 julho 2024
-
PDF) Rubinstein-Taybi syndrome: Dental manifestations and management05 julho 2024
-
PDF) Oro-dental features as useful diagnostic tool in Rubinstein–Taybi syndrome05 julho 2024
-
PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the clinical and genetic spectrum05 julho 2024
-
Rubinstein-Taybi Syndrome05 julho 2024
-
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine05 julho 2024
-
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP30005 julho 2024
-
Growth charts for individuals with Rubinstein–Taybi syndrome - Beets - 2014 - American Journal of Medical Genetics Part A - Wiley Online Library05 julho 2024
-
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP05 julho 2024
-
Rubinstein-Taybi syndrome: clinical features, genetic basis05 julho 2024
você pode gostar
-
Protocol for in vivo test. The time schedule of the in vivo test (A).05 julho 2024
-
Brasil leva jogo para tie-break, mas é superado pelo Japão na Copa dos Campeões de vôlei feminino — Rede do Esporte05 julho 2024
-
how to download patch pes 24 for pc|TikTok Search05 julho 2024
-
HAYABUSA NEW SHADOW COMBO PERFECT?, TUTORIAL HAYABUSA05 julho 2024
-
NOVO JOGO GRÁTIS TIPO GTA COM CARROS PARA CELULAR ANDROID (CAR05 julho 2024
-
Wubbox feito as pressas!! Devo colorir?05 julho 2024
-
Assistir Baki Hanma: Son of Ogre 2 Dublado Episodio 9 Online05 julho 2024
-
Palavras Cruzadas do Corpo Humano em COQUINHOS05 julho 2024
-
X 上的Los Mugiwara (One Piece):「Ayudaron a Luffy en su camino para ser el Rey de los Piratas #mms_mgp #OnePiece / X05 julho 2024
-
Stream Game of Thrones online: how to watch every season from every country05 julho 2024