A5015388430- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Craniofacial Disorders and Treatments
- Dermatological and Skeletal Disorders
- Cleft Lip and Palate Research
- Bone Metabolism and Diseases
- RNA and protein synthesis mechanisms
- Congenital heart defects research
- Epilepsy research and treatment
- Congenital Ear and Nasal Anomalies
- Genomic variations and chromosomal abnormalities
- Head and Neck Anomalies
- Connective tissue disorders research
Scientific Center of Children's Health
2015-2016
Diaphanospondylodysostosis is a rare genetic skeletal disorder caused by biallelic variants in the BMPER gene. The term “diaphanospondylodysostosis” includes ischiospinal dysotosis, which was previously known as separate entity with milder clinical features. phenotype of diaphanospondylodysostosis quite variable and some cases have been lethal early postnatal period. main radiographic features disease are narrow chest, segmentation defects spine, rib anomalies, decreased ossification axial...
Summary Branchio‐oculo‐facial syndrome (BOFS, OMIM# 113620) is a rare autosomal dominant disorder characterised by branchial cleft sinus defects, ocular anomalies and facial dysmorphisms, including lip or palate pseudocleft, associated with mutations in the TFAP2A gene. Here, we performed clinical analysis mutation diagnostics seven BOFS patients Russia. The phenotypic presentation of observed three showed high heterogeneity, variation its main manifestations (linear loci cervical cutaneous...
Введение. Прионные заболевания, или трансмиссивные губкообразные энцефалопатии, – группа нейродегенеративных расстройств, характеризующихся быстро прогрессирующими деменцией и двигательными нарушениями. заболевания могут быть приобретенными, спорадическими, генетическими (наследоваться) характеризуются накоплением агрегацией прионов аномально свернутых белков. Заболевания имеют длительный инкубационный период (годы), но прогрессируют после манифестации клинических симптомов. Наиболее...
The article presents a detailed clinical and molecular cytogenetic analysis of the unique case rare chromosomal abnormality (duplication 14q11.2-q21.1 deletion 21q11.2-q21.3). This is result segregation (2:2) balanced translocation in father being carrier. Clinical manifestations sick child include delay physical, psychomotor speech development, epilepsy, skeletal abnormalities, cleft palate, multiple development microanomalies. microarray was applied for precise diagnosis.
To study mutations and polymorphisms in the sodium channels genes, determining development of idiopathic epilepsy (IE).The SCN1A gene by direct Sanger sequencing 53 patients targeted resequencing regions 34 genes 40 with different clinical forms IE was performed.Seven (c.3022G>T, c.3637C>T, c.1144G>T, c.80G>C, c.1603C>T, c.2427G>A c.1131A>C) were detected among gene. The (2 - nonsense mutation, 5 missense mutation) identified 7/40 (17.5%) using high-performance sequencing, Mutations channel...
The article presents the clinical cases of 6 patients with epilepsy, psychomotor and speech developmental delay. heterozygous variants nucleotide sequence in SPTAN1 gene were detected by whole exome sequencing. Mutations have been described epileptic encephalopathy 5 (ОMIM: 613477). history, electroencephalographic magnetic resonance imaging data our are similar children previously. It was shown that located closer to C-terminal region associated a more severe phenotype, whereas near...