First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant, BMC Medical Genetics
Por um escritor misterioso
Last updated 04 março 2025

Background Rubinstein-Taybi syndrome (RSTS; OMIM #180849, #613684) is a rare autosomal dominant genetic condition characterized by broad thumbs and halluces, facial dysmorphism, short stature and variable degree of intellectual disability. RSTS is associated with mutations in CREBBP and EP300 genes in 50–60% and 5–8% of cases, respectively. The majority of cases are de novo heterozygous mutations. Case presentation Here we describe a familial RSTS case, associated with a novel EP300 mutation. The proband was a 9 years old female, with mild learning difficulties. Her mother, who also had learning difficulties, was found to have short and broad thumbs. MLPA and panel-based NGS of CREBBP and EP300 were performed. A novel heterozygous frameshift mutation in exon 31 of the EP300 gene (c.7222_7223del; p.(Gln2408Glufs*39)) was found in both. Conclusions This case represents the first case of inherited EP300-RSTS. The location of the frameshift deletion not affecting HAT domain and PHD finger, could explain the mild phenotype and the well-preserved intelligence. These patients are mildly affected, and this case highlights the possible missed diagnosis. We would recommend molecular testing of apparently healthy parents, and in the case of inherited mutations, of all adult first degree relatives at risk.

Novel cAMP binding protein-BP (CREBBP) mutation in a girl with

Evaluation of Ayres Sensory Integration® Intervention on Sensory

Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP

Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of

Genetic Etiology of Left‐Sided Obstructive Heart Lesions: A Story

Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With

PDF) Rubinstein-Taybi syndrome medical guidelines

PDF) Rubinstein-Taybi syndrome medical guidelines

New insights into genetic variant spectrum and genotype–phenotype

Management of neuroendocrine tumor in a patient with Rubinstein

Novel heterozygous variants in the EP300 gene cause Rubinstein
Recomendado para você
-
Rubinstein–Taybi syndrome - Wikipedia04 março 2025
-
What Is Rubinstein-Taybi Syndrome? - StoryMD04 março 2025
-
Rubinstein-Taybi Syndrome: A Complete Overview — DermNet04 março 2025
-
Rubinstein-Taybi Syndrome 104 março 2025
-
Rubinstein-Taybi Syndrome: Symptoms, Causes, Treatment04 março 2025
-
SciELO - Brasil - Anestesia em paciente com síndrome de Rubinstein-Taybi: relato de caso Anestesia em paciente com síndrome de Rubinstein-Taybi: relato de caso04 março 2025
-
Síndrome de Rubinstein-Taybi • Neuraxis04 março 2025
-
Revista rst edição 4REVISTA RST-SINDROME RUBINSTEIN TAYBI by elaine paoli - Issuu04 março 2025
-
PDF) Genetic heterogeneity in Rubinstein-Taybi syndrome: Delineation of the phenotype of the first patients carrying mutations in EP30004 março 2025
-
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi and Filippi syndromes04 março 2025
você pode gostar
-
Jogo Forza Horizon 5 (Edição Exclusiva) Xbox Series04 março 2025
-
Marvel Has Painted Itself Into a Corner With the Scarlet Witch's04 março 2025
-
undertale) Chara x Sans - MsPringles_2471 - Wattpad04 março 2025
-
Boushoku no Berserk Ep 5 Review04 março 2025
-
[Transcript] Elon Musk and Lex Fridman on Supreme Beings, Alien Kidnapping Scenarios, and Diablo04 março 2025
-
O dia em que o PS2 voou em um avião militar04 março 2025
-
Who has Brooklyn Beckham dated? From Rita Ora to Chloe Grace Moretz – The Sun04 março 2025
-
Desenhando o Majin Boo - Dragon Ball Z04 março 2025
-
Battlefield 4 Premium Edition Origin Cheap Cd Key04 março 2025
-
Jolyn JOJO Anime Hair's Code & Price - RblxTrade04 março 2025