SavedAdd your journal

Journals / Kocatepe Tıp Dergisi / 2022 / Cilt: 23 - Sayı: 2

A CASE OF PEBAT SYNDROME WITH A NOVEL MUTATION IN TUBULIN-SPECIFIC CHAPERONE D (TBCD) GENE

TUBULİN-SPECİFİC CHAPERONE D (TBCD) GENİNDE YENİ BİR MUTASYON TESPİT EDİLEN PEBAT SENDROMLU OLGU

Muhsin ELMAS
Başak GÖĞÜŞ
Ayşegül BÜKÜLMEZ
Mustafa SOLAK
Pages
231–234
Publication Date
2022-04-20
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

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.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Tubulinopathies describe a family of neurodevelopmental / neurodegenerative diseases caused by mutations in various genes encoding tubulin isoforms.
📊
Key Findings & Data: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.
💡
Conclusion & Impact: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.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:PEBAT sendromu · TBCD geni · Ensefalopati

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.

Özet

Tubulinopatiler, tubulin izoformlarını kodlayan çeşitli genlerde meydana gelen mutasyonların sebep olduğu nörogelişimsel / nörodejeneratif hastalıklar ailesini tanımlamaktadır. Tubulin katlanmasına ve polimerizasyonuna katılan beş tubulin spesifik şaperondan birini kodlayan tubuline özgü şaperon D (Tubulin-Specific Chaperone D, TBCD)'deki mutasyonlar, nadir görülen nörogelişimsel “ensefalopati, ilerleyici, erken başlangıçlı ve beyin atrofisi ve ince korpus kallosum” ile karakterize PEBAT sendromuna neden olur. Söz konusu sendrom, erken başlangıçlı kortikal atrofi, sekonder hipomyelinasyon, mikrosefali, gelişimsel gecikme, mental retardasyon, epilepsi, optik atrofi, spastik kuadripleji ve beyin manyetik rezonans görüntülemesinde ince korpus kallozum görüntüsü ile karakterize nörogelişimsel ve nörodejeneratif özelliklere sahiptir. PEBAT sendromuna neden olan TBCD'deki mutasyonlar otozomal ressesif kalıtım paterni ile geçiş göstermektedir. Dolayısıyla akraba evliliği söz konusu mutasyon için önemli bir risk faktörüdür. 5 yaşındaki erkek hasta epilepsi ve nöromotor gerilik şikayetiyle tarafımıza başvurmuştur. Yapılan tüm ekzom dizileme analizinde TBCD geninde homozigot [c.230A>G (p.His77Arg) (p.H77R)] mutasyonu saptandı.

🔖

Cite This Article

ELMAS, M., GÖĞÜŞ, B., BÜKÜLMEZ, A., SOLAK, M. (2022). A CASE OF PEBAT SYNDROME WITH A NOVEL MUTATION IN TUBULIN-SPECIFIC CHAPERONE D (TBCD) GENE. Kocatepe Tıp Dergisi, Cilt: 23 - Sayı: 2, 231–234. https://ajindex.com/articles/686143

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (6)

  1. Flex E, Niceta M, Cecchetti S, et al.Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy. Am J Hum Genet. 2016;99(4):962-973
  2. Tischfield MA, Cederquist GY, Gupta ML Jr, et al. Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations. Curr Opin Genet Dev. 2011;21(3):286-94
  3. Miyake N, Fukai R, Ohba C et al.,Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy. Am J Hum Genet. 2016;99(4):950-961
  4. Ikeda T, Nakahara A, Nagano R, et al.TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy.J Hum Genet. 2017;62(4):473-480
  5. Edvardson S, Tian G, Cullen H, et al. Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway. Hum Mol Genet. 2016;25(21):4635-4648
  6. Pode-Shakked B, Barash H, Ziv L, et al. Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy. Clin Genet. 2017;91(5):725-738.