Novel splice (IVS18+1G&gt;C) mutation in COL2A1 causing Kniest dysplasia

Al‐Hashmi, Nadia; Imtiaz, Faiqa; Ramzan, Khushnooda; Faden, Maha; Shuaib, Taghreed; Al-Otaibi, Lefian; Al-Hemidan, Amal; Al‐Owain, Mohammed

doi:10.1097/mcd.0b013e32835c297e

Cited by 8 publications

(5 citation statements)

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“…Radiographic features can distinguish Kniest dysplasia from other type II collagenopathies, with platyspondyly with coronal clefts of the vertebral bodies and short tubular dumbbell‐shaped bones with large deformed epiphyses and splayed metaphyses [Dwek, ]. Cartilage from Kniest dysplasia patients presented with distinct morphology under light microscopy, with an appearance like “Swiss cheese.” Kniest dysplasia mutations mostly arise from the triple‐helicoidal region of alpha 1 (II) chain in COL2A1 between exons 12 and 24, with a variety of different molecular mechanisms, including exon skipping due to splice‐site mutations [Fernandes et al, ; Wilkin et al, ; Al‐Hashmi et al, ; Terhal et al, ], missense mutations [Wilkin et al, ; Wu et al, ] or deletions [Wilkin et al, ; Terhal et al, ]. The relationship between genotype and extraskeletal phenotype in type II collagenopathies is unclear, and there is no delineating profile of complications specific to mutation groups [Nishimura et al, ].…”

Section: Discussionmentioning

confidence: 99%

Association between Kniest dysplasia and chondrosarcoma in a child

Hochart

Dieux

Coucke

et al. 2015

American J of Med Genetics Pt A

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Constitutive COL2A1 mutations are associated with a wide variety of clinical manifestations known as type II collagenopathies. Among them is Kniest dysplasia, which is phenotypically variable and includes both skeletal (short trunk and limbs, kyphoscoliosis, prominent joints, and osteoarthritis) and craniofacial characteristics. Kniest dysplasia mutations primarily arise in the triple-helicoidal region of the alpha 1 (II) chain in COL2A1 between exons 12 and 24. Somatic COL2A1 mutations have been identified in chondrosarcoma, a rare cartilage forming neoplasm, with a hypermutability of the gene reported in 37% of cases. However, to the best of our knowledge, there is no reported increase in predisposition to chondrosarcoma in human collagenopathies, and no reported clinical association between these congenital diseases and cartilaginous tumors. In the case study presented here, we report the first description of an association between these two rare diseases involving COL2A1, in a child presenting with Kniest dysplasia and a grade I sphenoethmoidal chondrosarcoma. We also describe a new constitutive mutation in COL2A1.

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Section: Discussionmentioning

confidence: 99%

Association between Kniest dysplasia and chondrosarcoma in a child

Hochart

Dieux

Coucke

et al. 2015

American J of Med Genetics Pt A

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“…Characteristic features include skeletal and craniofacial abnormalities. [9,10] Skeletal manifestations consist of disproportionate dwarfism, short trunk and small pelvis, kyphoscoliosis, short limbs, prominent joints, and premature osteoarthritis resulting in restricted mobility. Craniofacial features comprise midface hypoplasia, cleft palate, early-onset myopia, retinal detachment, and hearing loss.…”

Section: Discussionmentioning

confidence: 99%

“…Craniofacial features comprise midface hypoplasia, cleft palate, early-onset myopia, retinal detachment, and hearing loss. [9,10]…”

Section: Discussionmentioning

confidence: 99%

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Restoration of vision in Kniest dysplasia patient characterized by retinal detachment with dialysis of the ora serrata: A case report

Zhu,

Xing,

et al. 2023

Medicine

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Introduction: Congenital eye diseases have a significant impact on children and young adults. Retinal detachment associated with Kniest dysplasia represents the most severe ocular complication, which is challenging to diagnose and treat effectively. Genetic testing has emerged as an invaluable tool for diagnosing hereditary diseases. Case presentation: A 23-year-old male presented to our Ophthalmology Clinic with retinal detachment involving dialysis of the ora serrata in his left eye. High-throughput exon sequencing enabled a definitive diagnosis of Kniest dysplasia resulting from a mutation in the COL2A1 gene. The patient subsequently underwent pars plana vitrectomy with silicone oil injection to reattach the retina. This surgical intervention successfully reattached the retina and restored vision to 20/25 in the affected eye. Conclusion: Retinal detachment represents the most serious ocular complication associated with Kniest dysplasia. To prevent permanent blindness, early diagnosis through genetic testing and regular ophthalmological examinations are imperative. Advances in genetic screening have improved the management of retinal detachment risk in Kniest dysplasia patients.

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“…Yokoyama et al (2003) identified a single bp substitution at position +5 of intron 20. Al-Hashmi et al (2013) identified heterozygous substitution of a glutamine to a cytosine at intervening sequence position +1 from the intron 18 affecting the donor splice site. Hochart et al (2015) reported base substitution in intron 16 in a case of Kniest dysplasia with grade I sphenoethmoidal chondrosarcoma similar to the genetic mutation described by Sarka et al (2016) in their case.…”

Section: Kniest Dysplasia Reviewmentioning

confidence: 99%

Orthodontic Treatment in a Patient With Kniest Dysplasia: A Case Study and Review of Literature

Jhamb

Masood

Arigo

et al. 2019

The Cleft Palate Craniofacial Journal

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Kniest dysplasia is a rare autosomal dominant chondrodysplasia that is characterized by distinct musculoskeletal and craniofacial irregularities. These craniofacial abnormalities include cleft palate, midface anomalies, tracheomalacia, and hearing loss. This article illustrates a case of Kniest dysplasia that presented for orthodontic treatment. The purpose of this literature review is to describe clinical manifestations, radiographic features, histopathological features, genetic mutation, and management of Kniest dysplasia.

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Novel splice (IVS18+1G>C) mutation in COL2A1 causing Kniest dysplasia

Cited by 8 publications

References 8 publications

Association between Kniest dysplasia and chondrosarcoma in a child

Association between Kniest dysplasia and chondrosarcoma in a child

Restoration of vision in Kniest dysplasia patient characterized by retinal detachment with dialysis of the ora serrata: A case report

Orthodontic Treatment in a Patient With Kniest Dysplasia: A Case Study and Review of Literature

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