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Article

Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A.

Human mutation - 1 Aug 2021

Upadhyai Priyanka, Radhakrishnan Periyasamy, Guleria Vishal S, Kausthubham Neethukrishna, Nayak Shalini S, Superti-Furga Andrea, Girisha Katta M

Abstract excerpt

Biallelic loss of function variants in TRIP11 encoding for the Golgi microtubule-associated protein 210 (GMAP-210) causes the lethal chondrodysplasia achondrogenesis type 1A (ACG1A). Loss of TRIP11 activity has been shown to impair Golgi structure, vesicular transport, and results in loss of IFT20 anchorage to the Golgi that is vital for ciliary trafficking and ciliogenesis. Here, we report four fetuses, two each...

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PMID: 34057271
DOI: 10.1002/humu.24235

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Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A.PMID 34057271Read ↗

Hypomorphic mutations of TRIP11 cause odontochondrodysplasiaSemantic proximity Read ↗

Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplasia to achondrogenesis 1A.Semantic proximity Read ↗

A common pathomechanism in GMAP-210- and LBR-related diseases.Semantic proximity Read ↗

The phenotype range of achondrogenesis 1A.Semantic proximity Read ↗

The skeletal phenotype of achondrogenesis type 1A is caused exclusively by cartilage defects.Semantic proximity Read ↗

Novel deep intronic and frameshift mutations causing a TRIP11-related disorder.Semantic proximity Read ↗

Complete loss of IFT27 function leads to a phenotypic spectrum of fetal lethal ciliopathy associated with altered ciliogenesis.Semantic proximity Read ↗

Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis.Semantic proximity Read ↗

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Base editing derived models of human <i>WDR34</i> and <i>WDR60</i> disease alleles replicate retrograde IFT and hedgehog signaling defects and suggest disturbed Golgi protein transportSemantic proximity Read ↗

Distinct effects of hypomorphic IFT and dynein-2 skeletal ciliopathy disease alleles on chondrogenic differentiation, ECM composition and wnt signalling in ATDC5 derived cartilage-like organoidsSemantic proximity Read ↗

Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants.Semantic proximity Read ↗

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