Dados do Trabalho

Título

TRAF7 SYNDROME: AN ULTRA-RARE CONDITION

Apresentação dos casos

LSRA, 5 years old, white, female, 16 kg (z -2), BMI 14 (z-1) referred to the child neurology service 1 year old due to changes in his eyes noticed by his mother. She had no comorbidities or previous hospitalizations. About neonatal history, uneventful pregnancy, G3P3A0, birth by elective cesarean, term, no neonatal resuscitation and weight 3195 grams. Presented late neonatal jaundice treated with phototherapy and normal newborn screening tests. About family background, non-consanguineous, healthy parents and two healthy older brothers. The patient developed delayed onset of neuropsychomotor development with global impairment, impairment in social skills, repetitive pattern of behavior, stereotypies, mental disorder sensory processing, facial gestalt, ostiium secundum atrial septal defect, low weight gain, does not speak and communicates through gestures. About her appearance, presents microcephaly, increase in hair whorls, apparent telecanthus, tip bulbous nasal cavity, small palpebral fissure, oblique upwards, GAP sandal, fingers elongated, joint hypermobility and elongated fingers. Investigated as probable inborn error of metabolism, but expanded research through the genome with heterozygous variant of likely pathogenic mutation in the TRAF7:c.1798G>A / p.(GLY600SER). Follow-up with multispecialties and rehabilitation therapy.

Discussão

There are around 60 cases described in the literature about TRAF7 syndrome. To the manifestations are global neuropsychomotor development delay (NPMD); intellectual disability, autism spectrum disorder, characteristic facial dysmorphia hearing deficits, vision abnormalities, congenital heart defect, epilepsy, low stature, low weight, feeding difficulties, clinical signs of early ageing, hair loss, atherosclerosis and premature osteoporosis, and changes skeletal. TRAF7 pathogenic variants are “de novo”, autosomal dominant inheritance and located on chromosome 16p13.3. Is involved in multiple biological processes encoding a member of a family of proteins known as factors associated with the tumor necrosis factor (TNF) receptor, signal transducers for members of the TNF receptor superfamily.

Comentários finais

Waiting for a diagnosis results in a lack of support for families, treatments non-existent or inadequate. Knowledge of the disease, the completion of the investigation and early diagnosis would help to support the patient/family.

Referências

Tokita MJ, et al. De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features. Am J Hum Genet. 2018 Jul 5;103(1):154-162. doi: 10.1016/j.ajhg.2018.06.005.

Palavras Chave

Rare Diseases; Genome; Early Diagnosis