A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
Por um escritor misterioso
Last updated 28 maio 2024
Background This study was to report a novel CREBBP mutation and phenotype in a child with Rubinstein–Taybi syndrome. Methods Case report of a 9-year-old boy. Results We described the patient’s clinical manifestations in detail, and found that in addition to the typical systemic manifestations of the syndrome, the outstanding manifestation of the child was severe intellectual deficiency and prominent ocular abnormalities. Whole-exome sequencing and sanger sequencing were performed on the patient and his parents, a large intragenic deletion, covering the exon 1 region and part of the intron 1 region of the TRAP1 gene, and the entire region from intron 27 to exon 30 of the CREBBP gene (chr16:3745393-3783894) was identified on the patient. This mutation affected the CREBBP histone acetyltransferase (HAT) domain. Conclusions This findings in our patient add to the spectrum of genetic variants described in Rubinstein–Taybi syndrome and present a RSTS patient with various ocular anomalies including early onset glaucoma.
PDF) Genetic heterogeneity in Rubinstein-Taybi syndrome
Rubinstein–Taybi syndrome: clinical and molecular overview
PDF) Rubinstein–Taybi syndrome (CREBBP, EP300)
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2
Mosaic CREBBP mutation causes overlapping clinical features of
PDF) Rubinstein-Taybi syndrome medical guidelines
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
PDF] Chromosome 16p13.3 Contiguous Gene Deletion Syndrome
CREBBP mutations in individuals without Rubinstein–Taybi syndrome
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian
Genes, Free Full-Text
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With
PDF) Rubinstein-Taybi syndrome medical guidelines
Recomendado para você
-
Exon deletions of the EP300 and CREBBP genes in two children with28 maio 2024
-
PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the clinical and genetic spectrum28 maio 2024
-
Clinical and molecular findings of the six patients with Rubinstein28 maio 2024
-
Rubinstein-Taybi Syndrome28 maio 2024
-
About - DECIPHER v11.2328 maio 2024
-
Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein- Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia – topic of research paper in Clinical medicine. Download scholarly article PDF28 maio 2024
-
Rubinstein-Taybi syndrome - wikidoc28 maio 2024
-
Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly - Yu - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library28 maio 2024
-
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library28 maio 2024
-
New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients - Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library28 maio 2024
você pode gostar
-
Vingador se torna novo Motoqueiro Fantasma em HQ28 maio 2024
-
Kit Bradshaw on X: Tesco has just made me doubt myself in a way that I never thought I would. Can we all agree that 12pm is midday and not midnight, right!?28 maio 2024
-
Revelia - Art. 344 a 349 CPC - Doutrina e Petições - Ozéias de Jesus dos Santos28 maio 2024
-
Arceus best Stats // Pokemon Legends: Arceus // (Download Now)28 maio 2024
-
Descobrimos quem é a SERPENTE - Assassin's Creed Origins - #2028 maio 2024
-
Minecraft's next game will be a Pokémon Go-style mobile game - Polygon28 maio 2024
-
Jogo de Cartas, Perguntas e Respostas Bíblicas28 maio 2024
-
BEST STARTER LOOMIAN *OP*! Roblox Loomian Legacy28 maio 2024
-
7 Jogos psp com manual instruções Vila Nova de Gaia • OLX Portugal28 maio 2024
-
5422D/5423D Lock Boxes28 maio 2024