[HTML][HTML] Aortic disease and cardiomyopathy in patients with a novel DNMT3A gene variant causing Tatton-Brown–Rahman syndrome

D Zebrauskiene, E Sadauskiene, J Dapkunas… - Clinical …, 2024 - ncbi.nlm.nih.gov
Abstract Tatton-Brown–Rahman syndrome (TBRS) is a rare congenital genetic disorder
caused by autosomal dominant pathogenic variants in the DNA methyltransferase DNMT3A …

Aortic root dilatation and dilated cardiomyopathy in an adult with Tatton‐Brown‐Rahman syndrome

AC Cecchi, A Haidar, I Marin… - American Journal of …, 2022 - Wiley Online Library
Abstract Tatton‐Brown‐Rahman syndrome is an autosomal dominant overgrowth syndrome
caused by pathogenic DNMT3A variants in the germline. Clinical findings of tall stature due …

Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome

V Totten, G Teixido-Tura, F Lopez-Grondona… - Journal of Medical …, 2024 - jmg.bmj.com
Background Tatton-Brown-Rahman syndrome (TBRS) is a rare disorder, caused by
DNMT3A heterozygous pathogenic variants, and first described in 2014. TBRS is …

Methylation signatures in clinically variable syndromic disorders: a familial DNMT3A variant in two adults with Tatton-Brown–Rahman syndrome

C Kumps, E D'haenens, J Kerkhof… - European Journal of …, 2023 - nature.com
Tatton-Brown-Rahman syndrome (TBRS; OMIM# 615879) is a rare overgrowth and
intellectual disability (ID) syndrome caused by heterozygous loss-of-function variants in the …

Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis

R Ghaoui, TT Ha, J Kerkhof, H McConkey, S Gao… - Neuromuscular …, 2023 - Elsevier
Pathogenic variants in DNMT3A are most commonly associated with Tatton-Brown-Rahman
Syndrome (TBRS), but includes other phenotypes such as Heyn-Sproul-Jackson syndrome …

Novel DNMT3A germline mutations are associated with inherited Tatton‐Brown–Rahman syndrome

B Xin, T Cruz Marino, J Szekely, J Leblanc… - Clinical …, 2017 - Wiley Online Library
Tatton‐Brown–Rahman syndrome (TBRS) was recently described in 13 isolated cases with
de novo mutations in the DNMT3A gene. This autosomal dominant condition is …

An adult patient with Tatton–Brown–Rahman syndrome caused by a novel DNMT3A variant and axonal polyneuropathy

AA AlSabah, M Alsalmi, R Massie… - American Journal of …, 2024 - Wiley Online Library
Abstract Tatton–Brown–Rahman syndrome (TBRS) is a rare autosomal dominant
overgrowth syndrome first reported in 2014 and caused by pathogenic variants in the DNA …

Clinical Case of Mild Tatton–Brown–Rahman Syndrome Caused by a Nonsense Variant in DNMT3A Gene

F Bostanova, O Levchenko, M Sharova… - Clinics and Practice, 2024 - mdpi.com
Tatton–Brown–Rahman syndrome is a rare autosomal dominant hereditary disease caused
by pathogenic variants in the DNMT3A gene, which is an important participant in epigenetic …

Acute myeloid leukaemia in a case with Tatton-Brown-Rahman syndrome: the peculiar DNMT3A R882 mutation

IHIM Hollink, AMW van den Ouweland… - Journal of medical …, 2017 - jmg.bmj.com
Background Recently a novel syndromic form of overgrowth with intellectual disability and
distinct facial features was identified caused by constitutional mutations in the epigenetic …

Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients

H Thomas, T Alix, É Renard, M Renaud… - Journal of Medical …, 2024 - jmg.bmj.com
Background Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as DNA
methyltransferase 3 alpha (DNMT3A)-overgrowth syndrome (DOS), was first described by …