Chondrodysplasias and TGFβ signaling

Goff, Carine Le; Cormier‐Daire, Valérie

doi:10.1038/bonekey.2015.9

Cited by 7 publications

(2 citation statements)

References 61 publications

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“…Fibrillin-1 is the primary structural component of extracellular matrix microfibrils present in elastic and non-elastic connective tissues ( 9 ). In the extracellular matrix of the growth plate, the microfibrillar network regulates the bioavailability and activity of the TGF-β, a key signaling pathway that modulates linear growth in chondrogenesis and osteogenesis ( 24 ).…”

Section: Discussionmentioning

confidence: 99%

Case Report: Two different acromelic dysplasia phenotypes in a Chinese family caused by a missense mutation in FBN1 and a literature review

Tian,

Dong,

Yuan

et al. 2024

Front. Pediatr.

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BackgroundAcromelic dysplasia caused by FBN1 mutation includes acromicric dysplasia (AD), geleophysic dysplasia 2 (GD2), and Weill-Marchesani syndrome 2 (WMS2). All three diseases share severe short stature and brachydactyly. Besides phenotypic similarity, there is a molecular genetic overlap among them, as identical FBN1 gene mutations have been identified in patients with AD, GD2, and WMS2. However, no family with different acromelic dysplasia phenotypes due to the same variant has been described in English reports.Case reportThe proband presented with typical facial features, severe short stature, short limbs, stubby hands and feet and radiological abnormalities. Her elder sister and mother had similar physical features. In addition, her elder sister was found to have aortic valve stenosis by echocardiography. Mutation analysis demonstrated a heterozygous missense mutation, c.5179C>T (p.Arg1727Trp) in exon 42 of the FBN1. The proband and her mother were diagnosed with AD, and her elder sister with GD2. The proband was treated with recombinant human growth hormone (rhGH) and had a body length gain of 0.72 SDS in half a year.ConclusionThese findings expand the phenotypic spectrum of FBN1 gene mutations and highlight that identical FBN1 genotypes can result in different phenotypes of acromelic dysplasia in a family. The efficacy of rhGH therapy in patients with acromelic dysplasia is controversial. More follow-up is needed on the long-term efficacy of rhGH therapy.

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Section: Discussionmentioning

confidence: 99%

Case Report: Two different acromelic dysplasia phenotypes in a Chinese family caused by a missense mutation in FBN1 and a literature review

Tian,

Dong,

Yuan

et al. 2024

Front. Pediatr.

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“…These genes encode proteins involved in the microfibrillar network, a key component of the extracellular matrix with an important role in its mechanical function and the bioavailability and activity of the TGF-β superfamily. 9 Alterations of microfibrillar network and enhanced TGF-β bioavailability had been shown in acromelic dysplasia. [6][7][8]10 Pathogenic variants in FBN1 are all located in exons 41 and 42 encoding TGFβ-binding protein-like domain 5 (TB5).…”

Section: Introductionmentioning

confidence: 99%