TCTN3

Last update 08 May 2025

Basic Info

Synonyms

C10orf61, DKFZP564D116, JBTS18

+ [4]

Introduction

Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). May be involved in apoptosis regulation. Necessary for signal transduction through the sonic hedgehog (Shh) signaling pathway.

100 Clinical Results associated with TCTN3

100 Translational Medicine associated with TCTN3

0 Patents (Medical) associated with TCTN3

Literatures (Medical) associated with TCTN3

01 Nov 2022·Annals of Human Genetics

A splice site variant inTCTN3underlies an atypical form of orofaciodigital syndrome IV

Article

Author: Hussain, Shabir ; Nawaz, Shoaib ; Schrauwen, Isabelle ; Khan, Hammal ; Leal, Suzanne M. ; Acharya, Anushree ; Ahmad, Wasim

AbstractOrofaciodigital syndrome (OFD) is clinically heterogeneous and is characterized by abnormalities in the oral cavity, facial features, digits, and central nervous system. At least 18 subtypes of the condition have been described in the literature. OFD is caused by variants in several genes with overlapping phenotypes. We studied a consanguineous Pakistani family with two affected siblings with an atypical form of OFD type 4 (OFD4). In addition to the typical features of OFD4 that include limb defects and growth retardation, the siblings displayed rare features of scaphocephaly and seizures. Exome sequencing analysis revealed a novel homozygous splice site variant c.257‐1G>A inTCTN3that segregated with disease. This homozygous splice site variant inTCTN3is most likely the underlying cause of the atypical form of OFD4 observed in this family. Our results contribute to the phenotypic spectrum ofTCTN3associated ciliopathies and will facilitate better clinical diagnosis.

01 Aug 2022·American Journal of Medical Genetics Part A

De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome

Article

Author: Devine, Walter Patrick ; Loucks, Hailey ; Shieh, Joseph T. ; Posey, Jennifer E. ; Van Ziffle, Jessica ; Penon‐Portmann, Monica ; Coban‐Akdemir, Zeynep ; Eldomery, Mohammad K. ; Potocki, Lorraine ; Harel, Tamar ; Marafi, Dana ; Lupski, James R. ; Doherty, Dan ; Grochowski, Christopher M.

AbstractJoubert syndrome (JS), a well‐established ciliopathy, is characterized by the distinctive molar tooth sign on brain MRI, ataxia, and neurodevelopmental features. Other manifestations can include polydactyly, accessory frenula, renal, or liver disease. Here, we report individuals meeting criteria for JS with de novo heterozygous variants in SLC30A7 (Chr1p21.2). The first individual is a female with history of unilateral postaxial polydactyly, classic molar tooth sign on MRI, macrocephaly, ataxia, ocular motor apraxia, neurodevelopmental delay, and precocious puberty. Exome sequencing detected a de novo heterozygous missense variant in SLC30A7: NM_133496.5: c.407 T > C, (p.Val136Ala). The second individual had bilateral postaxial polydactyly, molar tooth sign, macrocephaly, developmental delay, and an extra oral frenulum. A de novo deletion–insertion variant in SLC30A7, c.490_491delinsAG (p.His164Ser) was found. Both de novo variants affect highly conserved residues. Variants were not identified in known Joubert genes for either case. SLC30A7 has not yet been associated with a human phenotype. The SLC30 family of zinc transporters, like SLC30A7, permit cellular efflux of zinc, and although it is expressed in the brain its functions remain unknown. Published data from proteomic studies support SLC30A7 interaction with TCTN3, another protein associated with JS. The potential involvement of such genes in primary cilia suggest a role in Sonic Hedgehog signaling. SLC30A7 is a candidate JS‐associated gene. Future work could be directed toward further characterization of SLC30A7 variants and understanding its function.

01 Jun 2022·American Journal of Medical Genetics Part A

Prenatally detected encephalocele associated with a novel pathogenicTCTN3variant: A case report and literature review

Review

Author: Kulišić, Dinko ; Crkvenac Gornik, Kristina ; Huljev Frković, Sanda ; Vičić, Ana ; Stipoljev, Feodora

AbstractPrimary cilia are a component of almost all vertebrate cells with a crucial role in sensing and transducing environmental signals during tissue development. Their dysfunction is known as ciliopathies and can manifest with a wide spectrum of clinical disorders. Overlapping features and molecular heterogeneity of ciliopathies make diagnoses distinctly challenging. In this group of diseases, tectonic genes, and their mutations play an important role. We present a first‐trimester fetus with occipital encephalocele and OFD type IV caused byTCTN3compound heterozygous pathogenic variants: c.1423_1429del (p.Arg475Serfs*10) and c.3G>A (initiator codon). A severe arm anomaly was described in our case, with two fingers along the atrophic forearm and polydactyly on other limbs. This could be a new phenotypic characteristic contributing to further understanding ofTCTN3‐related disorders as well as other tectonic proteins in ciliopathy spectrum diseases.

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