A CASE OF PEBAT SYNDROME WITH A NOVEL MUTATION IN TUBULIN-SPECIFIC CHAPERONE D (TBCD) GENE
Journal Title: Kocatepe Medical Journal - Year 2022, Vol 23, Issue 2
Abstract
Tubulinopathies describe a family of neurodevelopmental / neurodegenerative diseases caused by mutations in various genes encoding tubulin isoforms. Mutations in TBCD (Tubulin-Specific Chaperone D) that encodes one of the five tubulin-specific chaperones involved in tubulin folding and polymerization cause rare neurodevelopmental Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT) syndrome. The syndrome in question has neurodevelopmental and neurodegenerative features characterized by early-onset cortical atrophy, secondary hypomyelination, microcephaly, developmental delay, mental retardation, epilepsy, optic atrophy, spastic quadriplegia and thin corpus callosum on brain magnetic resonance imaging. Mutations in TBCD which cause PEBAT syndrome are inherited with an autosomal recessive inheritance pattern. Therefore, consanguineous marriages are an important risk factor for the mutation. A homozygous [c.230A>G (p.His77Arg) (p.H77R)] mutation in the TBCD gene was detected in the whole exome sequencing analysis of a 5-year-old male patient who applied with the complaints of epilepsy and neuromotor retardation.
Authors and Affiliations
Muhsin ELMAS, Başak GÖĞÜŞ, Ayşegül BÜKÜLMEZ, Mustafa SOLAK
Keywords
Related Articles
- EP ID EP702634
- DOI https://doi.org/10.18229/kocatepetip.471957 Öz
- Views 70
- Downloads 0
THE DENTISTS' ATTITUDES AND KNOWLEDGE LEVEL ABOUT TEETHING GELS
OBJECTIVE: The aim of the study was to evaluate a group of Turkish dentists' attitudes and level of knowledge about teething gels. MATERIAL AND METHODS: For this cross-sectional study, a questionnaire consisting of thre...
PSA TESTING: UTILIZATION, OUTCOMES AND VARIATIONS ACROSS AGE, GENDER AND GEOGRAPHIC REGIONS
OBJECTIVE: This study aims to evaluate the utilization and outcomes of PSA (Prostate-Specific Antigen) testing in the context of prostate cancer screening and diagnosis. The patterns of the PSA testing, the rates of exce...
THE EFFECT OF FIBRINOGEN INFUSION APPLIED AFTER CARDIOPULMONARY BYPASS ON BLEEDING IN CORONARY ARTERY BYPASS GRAFT SURGERY: RETROSPECTIVE COMPARATIVE STUDY
OBJECTIVE: The effect of administered fibrinogen concentrates in reducing the risk of postoperative bleeding that remains a serious problem in open heart surgery is controversial. We aimed to present the effect of fibrin...
DOES PRETREATMENT NEUTROPHIL‑LYMPHOCYTE RATIO AND PLATELET-LYMPHOCYTE RATIO HAVE A THERAPEUTIC EFFECTS IN RECURRENT AND/OR METASTATIC GYNECOLOGICAL MALIGNANCIES?
OBJECTIVE: In this study, the effect of pre-treatment neutrophil-to lymphocyte ratio (NLR) and platelet-lymphocyte ratio (PLR) on gynecological malignancies that applied radiotherapy and /or radiochemotherapy was investi...
KNOWLEDGE LEVEL AND VACCINATION STATUS OF PREGNANTS ABOUT COVID-19 DISEASE
OBJECTIVE: Coronavirus disease 2019 (COVID-19) can be more severe in the presence of pregnancy. The use of COVID-19 vaccines is safe and effective in pregnancy. In this study, it was aimed to examine the knowledge level...