Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics
Por um escritor misterioso
Last updated 20 setembro 2024
Background Rubinstein-Taybi Syndrome (RSTS, MIM 180849) is a rare congenital disorder characterized by mental and growth retardation, broad and duplicated distal phalanges of thumbs and halluces, facial dysmorphisms and increased risk of tumors. RSTS is caused by chromosomal rearrangements and point mutations in one copy of the CREB-binding protein gene (CREBBP or CBP) in 16p13.3. To date mutations in CREBBP have been reported in 56.6% of RSTS patients and an average figure of 10% has ascribed to deletions. Methods Our study is based on the mutation analysis of CREBBP in 31 Italian RSTS patients using segregation analysis of intragenic microsatellites, BAC FISH and direct sequencing of PCR and RT-PCR fragments. Results We identified a total of five deletions, two of the entire gene and three, all in a mosaic condition, involving either the 5' or the 3' region. By direct sequencing a total of 14 de novo mutations were identified: 10 truncating (5 frameshift and 5 nonsense), one splice site, and three novel missense mutations. Two of the latter affect the HAT domain, while one maps within the conserved nuclear receptor binding of (aa 1–170) and will probably destroy a Nuclear Localization Signal. Identification of the p.Asn1978Ser in the healthy mother of a patient also carrying a de novo frameshift mutation, questions the pathogenetic significance of the missense change reported as recurrent mutation. Thirteen additional polymorphisms, three as of yet unreported, were also detected. Conclusion A high detection rate (61.3%) of mutations is confirmed by this Italian study which also attests one of the highest microdeletion rate (16%) documented so far.
PDF) Rubinstein-Taybi Syndrome: Spectrum of CREBBP mutations in Italian patients
Rubinstein-Taybi Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
Frontiers Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics
iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability - ScienceDirect
PDF) Lacrimal drainage anomalies in Rubinstein-Taybi syndrome: case report and review of literature
PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics
Recomendado para você
-
Rubinstein-Taybi Syndrome20 setembro 2024
-
Minha história: Christiane, Isabela e a síndrome de Rubinstein20 setembro 2024
-
Rubinstein Syndrome - an overview20 setembro 2024
-
SÍNDROME DE RUBINSTEIN-TAYBI - CANAL INFANTIL20 setembro 2024
-
Infografía del Síndrome de Rubinstein-Taybi - Somosdisc@20 setembro 2024
-
Síndrome Rubinstein-taybi - Alterações Genéticas20 setembro 2024
-
Síndrome de Rubinstein-Taybi: causas, síntomas y tratamiento20 setembro 2024
-
Síndrome de Rubinstein-Taybi • Neuraxis20 setembro 2024
-
3 de julio: “Día Mundial del Síndrome de Rubinstein Taybi (SRT)” – Facultad de Ciencias Médicas20 setembro 2024
-
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library20 setembro 2024
você pode gostar
-
Five Nights at Freddy's Multiplayer Ver 4.0.1 (2-4 players)20 setembro 2024
-
Dex Latina - #lapras #gengar #kingler #shiny #gigantamax #gigamax #pokemon #kanto #galar20 setembro 2024
-
Bird Paradise - Wikipedia20 setembro 2024
-
Rexulti Alternatives We Offer Natural, Evidence-Based Options20 setembro 2024
-
Vue.js & Faker.js playground20 setembro 2024
-
Is Classroom of the Elite Worth Watching? – In Asian Spaces20 setembro 2024
-
Quais as duas bolas que todo mundo tem? - Charada e Resposta - Geniol20 setembro 2024
-
Stick Fighting: Basic Combos Series20 setembro 2024
-
Sportivo Italiano vs Leandro Nicéforo Alem H2H stats - SoccerPunter20 setembro 2024
-
Supercross & Motocross on Instagram: “Who will win the SX20 setembro 2024