The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.
- Tatton-Brown, K
- Zachariou, A
- Loveday, C
- Renwick, A
- Mahamdallie, S
- Aksglaede, L
- Baralle, D
- Barge-Schaapveld, D
- Blyth, M
- Bouma, M
- Breckpot, J
- Crabb, B
- Dabir, T
- Cormier-Daire, V
- Fauth, C
- Fisher, R
- Gener, B
- Goudie, D
- Homfray, T
- Hunter, M
- Jorgensen, A
- Kant, SG
- Kirally-Borri, C
- Koolen, D
- Kumar, A
- Labilloy, A
- Lees, M
- Marcelis, C
- Mercer, C
- Mignot, C
- Miller, K
- Neas, K
- Newbury-Ecob, R
- Pilz, DT
- Posmyk, R
- Prada, C
- Ramsey, K
- Randolph, LM
- Selicorni, A
- Shears, D
- Suri, M
- Temple, IK
- Turnpenny, P
- Val Maldergem, L
- Varghese, V
- Veenstra-Knol, HE
- Yachelevich, N
- Yates, L
- Clinical Assessment of the Utility of Sequencing and Evaluation
- Deciphering Developmental Disorders (DDD) Study
- Rahman, N
DOIAbstract
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 (7...
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