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The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

ABSTRACT: Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as the DNMT3A-overgrowth syndrome, is an overgrowth intellectual disability syndrome first described in 2014 with a report of 13 individuals with constitutive heterozygous DNMT3A variants. Here we have undertaken a detailed clinical study of 55 individuals with de novoDNMT3A variants, including the 13 previously reported individuals. An intellectual disability and overgrowth were reported in >80% of individuals with TBRS and were designated major clinical associations. Additional frequent clinical associations (reported in 20-80% individuals) included an evolving facial appearance with low-set, heavy, horizontal eyebrows and prominent upper central incisors; joint hypermobility (74%); obesity (weight ³2SD, 67%); hypotonia (54%); behavioural/psychiatric issues (most frequently autistic spectrum disorder, 51%); kyphoscoliosis (33%) and afebrile seizures (22%). One individual was diagnosed with acute myeloid leukaemia in teenage years. Based upon the results from this study, we present our current management for individuals with TBRS.

SUBMITTER: Tatton-Brown K 

PROVIDER: S-EPMC5964628 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with <i>de novo</i> constitutive <i>DNMT3A</i> variants.

Tatton-Brown Katrina K   Zachariou Anna A   Loveday Chey C   Renwick Anthony A   Mahamdallie Shazia S   Aksglaede Lise L   Baralle Diana D   Barge-Schaapveld Daniela D   Blyth Moira M   Bouma Mieke M   Breckpot Jeroen J   Crabb Beau B   Dabir Tabib T   Cormier-Daire Valerie V   Fauth Christine C   Fisher Richard R   Gener Blanca B   Goudie David D   Homfray Tessa T   Hunter Matthew M   Hunter Matthew M   Jorgensen Agnete A   Kant Sarina G SG   Kirally-Borri Cathy C   Koolen David D   Kumar Ajith A   Labilloy Anatalia A   Lees Melissa M   Marcelis Carlo C   Mercer Catherine C   Mignot Cyril C   Miller Kathryn K   Neas Katherine K   Newbury-Ecob Ruth R   Pilz Daniela T DT   Posmyk Renata R   Prada Carlos C   Ramsey Keri K   Randolph Linda M LM   Selicorni Angelo A   Shears Deborah D   Suri Mohnish M   Temple I Karen IK   Turnpenny Peter P   Val Maldergem Lionel L   Varghese Vinod V   Veenstra-Knol Hermine E HE   Yachelevich Naomi N   Yates Laura L   Rahman Nazneen N  

Wellcome open research 20180423

Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as the DNMT3A-overgrowth syndrome, is an overgrowth intellectual disability syndrome first described in 2014 with a report of 13 individuals with constitutive heterozygous <i>DNMT3A</i> variants. Here we have undertaken a detailed clinical study of 55 individuals with <i>de novo</i><i>DNMT3A</i> variants, including the 13 previously reported individuals. An intellectual disability and overgrowth were reported in >80% of individuals wit  ...[more]

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