Tatton-Brown-Rahman syndrome

Qu'est-ce que Tatton-Brown-Rahman syndrome?

This syndrome is also known as DNMT3A overgrowth syndrome. It is a recently discovered syndrome that causes overgrowth in affected individuals. There is still much that is not known about this rare condition. Intellectual disability and developmental delay are key symptoms of the syndrome.

Quelles sont les causes des changements génétiques Tatton-Brown-Rahman syndrome?

Changes in the DNMTA3 gene are responsible for causing the syndrome. This gene plays an important role in regulating the growth of the body before birth.

Quels sont les principaux symptômes de Tatton-Brown-Rahman syndrome?

Overgrowth is the main symptom of the syndrome. This leads to affected individuals being on a higher than average height throughout their life. This overgrowth begins before birth.

Other physical features of the syndrome include a curving of the back, flat feat, weak muscle tone and loose, hyper flexible joints.

Heart defects have also been associated with the syndrome.

Developmental delay, as well as issues with communication, behaviour and social skills (similar to those identified on the autism spectrum) are also common in affected individuals. An increased susceptibility to acute myeloid leukemia has also been documented.

Possible clinical traits/features:
Seizure, Atrial septal defect, Blepharophimosis, Scoliosis, Umbilical hernia, Round face

Comment quelqu'un se fait-il tester pour Tatton-Brown-Rahman syndrome?

Les premiers tests de Tatton-Brown-Rahman syndrome peut commencer par un dépistage par analyse faciale, en passant par le FDNA Telehealth plateforme de télégénétique, qui permet d'identifier les marqueurs clés de la syndrome et souligner la nécessité de tests supplémentaires. Une consultation avec un conseiller génétique puis un généticien suivra. 

Sur la base de cette consultation clinique avec un généticien, les différentes options pour les tests génétiques seront partagées et le consentement sera recherché pour des tests supplémentaires.

Informations médicales sur Tatton-Brown-Rahman syndrome

Tatton-Brown-Rahman syndrome (TBRS) is a new overgrowth syndrome that was initially described in 13 isolated cases (Tatton-Brown et al., 2014). This autosomal dominant condition is characterized by tall stature, intellectual disability and a distinctive facial appearance. De novo mutations in the DNMT3A gene were responsible for all of these cases.

Okamoto et al. (2016) reported a new TBRS patient from Japan caused by de novo microdeletion of chromosome 2p23 including the DNMT3A gene.

Xin et al. (2016) reported six additional cases of inherited TBRS in two unrelated families caused by novel DNMT3A germline mutations. a missense mutation and a small truncating deletion. The missense mutation was inherited from the healthy mosaic father. All six affected individuals shared the characteristic phenotype of TBRS, including a distinctive facial appearance with heavy and horizontal eyebrows and narrow palpebral fissures, relatively tall stature and intellectual disability (mild to moderate). Other common clinical features found in all 6 patients included long oval face, high arched palate, hypotonia and obesity. Major depression, anxiety, obsessive compulsive disorder and other psychosocial issues were identified in most patients. Additional clinical features such as macrocephaly, malar flush, scoliosis, and hypermobility of joints were observed.

Lemire et al. (2016) described a father and his two children with clinical features of Tatton–Brown–Rahman syndrome and heterozygous splice site mutation in DNMT3A gene. The proband was a 12 year-old boy with tall stature, macrocephaly, facial dysmorphism, and mild intellectual disability. He presented with global developmental delay since early infancy, had right congenital torticollis causing left positional plagiocephaly which resolved with physiotherapy and a dermoid cyst removed from his right forehead. At age twelve years he had severe expressive and receptive language disorder with attention deficit disorder. He had mild scoliosis and bilateral calcaneovalgus. Facial dysmorphism included depressed nasal bridge, large forehead, long eyelashes, narrow palpebral fissures, thin upper lip, low anterior hairline insertion and synophrys. His 10-year-old sister also had learning difficulties, overgrowth and mild facial dysmorphism, including synophrys, low anterior hairline insertion, and whole body hirsutism. She had mild lumbar scoliosis and mild small joint hypermobility. Her motor development was delayed. She had anxiety and socialisation difficulties compatible with autism spectrum disorder and attention deficit disorder with impulsivity treated with atomoxetine. Their father was a 49 year-old man with tall stature, macrocephaly, learning difficulties, and minor facial dysmorphism including broad nasal bridge, heavy horizontal eyebrows, thin upper lip and large forehead. He had a right occipital osteoma removed at 20 years of age.

Kosaki et al. (2017) described a female with Tatton-Brown-Rahman syndrome caused by a heterozygous constitutional DNMT3A mutation at the acute myeloid leukemia somatic mutation hotspot p.Arg882His. The mutation was present both in peripheral blood and buccal tissue. Clinical features included hypotonia, narrow palpebral fissures, ventricular septal defect, umbilical hernia, sacral cyst and Chiari type I anomaly. At the age of 6 years she exhibited overgrowth, round face and intellectual disability. At the time of her last examination, she has not developed leukemia.

Hollink et al. (2017) described a male patient with Tatton-Brown-Rahman syndrome and acute leukemia due to the recurrent R882 de novo mutation in the DNMT3A gene. Clinical features included intellectual disability, hypotonia, recurrent febrile seizures, obesity, recurrent upper airway infections, ventricular septum defect, soft skin, hypermobility of joints in hands, kyphosis, umbilical hernia, and cryptorchidism. Dysmorphic features were macrocephaly, frontal bossing, heavy horizontal eyebrows, narrow palpebral fissures, small nose with small alae nasi, thin upper lip and a short neck. He developed acute myeloid leukemia.

* This information is courtesy of the L M D.
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