Prenatal diagnosis of Kniest dysplasia with three-dimensional helical computed tomography

Wada, Reona; Sawai, Hideaki; Nishimura, Gen; Isono, Kazutomo; Minagawa, Kyoko; Takenobu, Takashi; Harada, Kieko; Tanaka, Hiroyuki; Ishikura, Reiichi; Komori, Shinji

doi:10.3109/14767058.2010.545903

Cited by 13 publications

(6 citation statements)

References 12 publications

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“…We found a hot spot of mutation (c.905C > T) (Table ), which resulted in an alternatively spliced mRNA and protein deletion (p.Ala302_Lys308del) . Furthermore, nine cases of RNA mutation that affected normal splicing were reported, along with five missense mutations, three frameshift mutations, and one nonsense mutation …”

Section: Resultsmentioning

confidence: 94%

“…We found a hot spot of mutation (c.905C > T) ( Table 2), which resulted in an alternatively spliced mRNA and protein deletion (p.Ala302_Lys308del). [23][24][25] Furthermore, nine cases of RNA mutation that affected normal splicing were reported, 11,24,45,89,91,92 along with five missense mutations, 24,32,45,93 three frameshift mutations, 11,91,94 and one nonsense mutation. 45 Idiopathic ANFH (MIM #608805) is defined as a disorder that cau- Gly717Ser occurred in a three-generation family.…”

Section: Types Mainly Involved In Long Bone and Joint Disordersmentioning

confidence: 99%

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Integrated analysis of COL2A1 variant data and classification of type II collagenopathies

Zhang

et al. 2019

Clinical Genetics

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The COL2A1 gene encodes the alpha‐1 chain of type II procollagen. Type II collagen, comprised of three identical alpha‐1 chains, is the major component of cartilage. COL2A1 gene variants are the etiologies of genetic diseases, termed type II collagenopathies, with a wide spectrum of clinical presentations. To date, at least 460 distinct COL2A1 mutations, identified in 663 independent probands, and 21 definite disorders have been reported. Nevertheless, a well‐defined genotype‐phenotype correlation has not been established, and few hot spots of mutation have been reported. In this study, we analyzed data of COL2A1 variants and clinical information of patients obtained from the Leiden Open Variation Database 3.0, as well as the currently available relevant literature. We determined the characteristics of the COL2A1 variants and distributions of the clinical manifestations in patients, and identified four likely genotype‐phenotype correlations. Moreover, we classified 21 COL2A1‐related disorders into five categories, which may assist clinicians in understanding the essence of these complex phenotypes and prompt genetic screening in clinical practice.

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Section: Resultsmentioning

confidence: 94%

Section: Types Mainly Involved In Long Bone and Joint Disordersmentioning

confidence: 99%

Integrated analysis of COL2A1 variant data and classification of type II collagenopathies

Zhang

et al. 2019

Clinical Genetics

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“…Notably, 18 amino acids correspond to the number of residues in a turn of the extended left-handed helix formed by each collagen chain in the collagen triple helix (Figure 4) [17]. 1994) [20]; p.Gly324_Ala341del, p.Gly357_Gly363del, p.Gly423_Ala428del, and p.Gly456_Pro473del (Wilkin et al 1999) [12]; p.Gly342_Pro356del (Fernandes et al 1988;Wada et al 2011) [21,22]; p.Gly408_Ala422del (Spranger et al 1997) [23]; p.Gly474_Gln479del (Winterpacht et al 1994) [24]; p.Gly561_Ser578del (Weis et al 1998) [13]; p.Gly804_Pro821del (Mortier et al 2000) [25]; p.Gly1164_Ala1199del (Lee et al 1989) [26].…”

Section: Discussionmentioning

confidence: 99%

“…Amino acid numbering refers to the protein with NCBI accession code NP_001835.3. p.Gly423_Thr455del (our study); p.Gly732_Arg767del and p.Gly1017_Val1022del (Körkkö et al 2000) [18]; p.Pro916_Gly1074del (Barat-Houari et al 2016) [10]; p.Gly291_Lys308del (Winterpacht et al 1993) [19]; p.Ala302_Lys308del (Bogaert et al1994)[20]; p.Gly324_Ala341del, p.Gly357_Gly363del, p.Gly423_Ala428del, and p.Gly456_Pro473del(Wilkin et al 1999) [12]; p.Gly342_Pro356del(Fernandes et al 1988;Wada et al 2011) [21,22]; p.Gly408_Ala422del(Spranger et al 1997) [23]; p.Gly474_Gln479del(Winterpacht et al 1994) [24]; p.Gly561_Ser578del(Weis et al 1998) [13]; p.Gly804_Pro821del(Mortier et al 2000) [25]; p.Gly1164_Ala1199del(Lee et al 1989) [26].…”

mentioning

confidence: 99%

A Novel Splicing Variant of COL2A1 in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions

Bruni

Spoleti

Barbera

et al. 2021

Genes

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Achondrogenesis type II (ACG2) is a lethal skeletal dysplasia caused by dominant pathogenic variants in COL2A1. Most of the variants found in patients with ACG2 affect the glycine residue included in the Gly-X-Y tripeptide repeat that characterizes the type II collagen helix. In this study, we reported a case of a novel splicing variant of COL2A1 in a fetus with ACG2. An NGS analysis of fetal DNA revealed a heterozygous variant c.1267-2_1269del located in intron 20/exon 21. The variant occurred de novo since it was not detected in DNA from the blood samples of parents. We generated an appropriate minigene construct to study the effect of the variant detected. The minigene expression resulted in the synthesis of a COL2A1 messenger RNA lacking exon 21, which generated a predicted in-frame deleted protein. Usually, in-frame deletion variants of COL2A1 cause a phenotype such as Kniest dysplasia, which is milder than ACG2. Therefore, we propose that the size and position of an in-frame deletion in COL2A1 may be relevant in determining the phenotype of skeletal dysplasia.

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“…However, it is difficult to diagnose the type of skeletal dysplasia specifically when using this method. Wada et al (2011) was first to utilize 3-dimensional helical computed tomography to identify skeletal manifestation of Kniest dysplasia for a definitive diagnosis. Distinct radiographic features of Kniest dysplasia can be identified at birth, which include coronal clefts of vertebrae, dumbbell-shaped femur, dysplastic epiphyses and metaphyses, narrowed joint spaces, platyspondyly, and short tubular bones (Lachman et al, 1975).…”

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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Prenatal diagnosis of Kniest dysplasia with three-dimensional helical computed tomography

Abstract: The combined use of 3D-CT with ultrasonography is a power tool for the prenatal diagnosis of congenital skeletal dysplasias.

Cited by 13 publications

References 12 publications

Integrated analysis of COL2A1 variant data and classification of type II collagenopathies

Integrated analysis of COL2A1 variant data and classification of type II collagenopathies

A Novel Splicing Variant of COL2A1 in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions

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

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