Dataset Information

A novel p. Gly630Ser mutation of COL2A1 in a Chinese family with presentations of Legg-Calve-Perthes disease or avascular necrosis of the femoral head.

ABSTRACT:

Objective

Mutations in the type II collagen gene are associated with certain human disorders, collectively termed type II collagenopathies. They include Legg-Calvé-Perthes disease (LCPD) and avascular necrosis of the femoral head (ANFH). These two diseases are skeletal dysplasias, inherited in an autosomal dominant fashion, characterized by groin pain, dislocation of the hip and diminished joint mobility. Coxa vara and elevation of the greater trochanter of the femur comprise the typical phenotype of LCPD, but do not occur in ANFH. Lack of synthesis of type II collagen and structural defects are responsible for the major clinical outcomes, because collagen is the essential matrix protein of all connective tissues. Type II collagen, encoded by the COL2A1 gene, contains N- and C- terminal regions that are cleaved after secretion into the extracellular matrix, and the core area is composed of a triple helical (Gly-X-Y) domain. If the Gly in this specific region is replaced by other amino acids, the structure of type II collagen will be destroyed.

Method

Forty-five members of a four-generation family were recruited and investigated. Diagnosis was made by independent orthopedic surgeons and radiologists. A mutation of the COL2A1 gene was detected.

Result

In our research, we identify a heterozygous mutation (c.1888 G>A, p. Gly630Ser) in exon 29 of COL2A1 in the Gly-X-Y domain, in a Chinese family affected by LCPD and ANFH. Our findings provide significant clues to the phenotype-genotype relationships in these syndromes and may be helpful in clinical diagnosis. Furthermore, these results should assist further studies of the mechanisms underlying collagen diseases.

Conclusion

Our data add new variants to the repertoire of COL2A1 mutation resulting in related collagenopathies.

SUBMITTER: Li N

PROVIDER: S-EPMC4065060 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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Publications

A novel p. Gly630Ser mutation of COL2A1 in a Chinese family with presentations of Legg-Calvé-Perthes disease or avascular necrosis of the femoral head.

Li Na N Yu Jian J Cao Xiang X Wu Qiu-Yue QY Li Wei-Wei WW Li Tian-Fu TF Zhang Cui C Cui Ying-Xia YX Li Xiao-Jun XJ Yin Zhi-Min ZM Xia Xin-Yi XY

PloS one 20140620 6

<h4>Objective</h4>Mutations in the type II collagen gene are associated with certain human disorders, collectively termed type II collagenopathies. They include Legg-Calvé-Perthes disease (LCPD) and avascular necrosis of the femoral head (ANFH). These two diseases are skeletal dysplasias, inherited in an autosomal dominant fashion, characterized by groin pain, dislocation of the hip and diminished joint mobility. Coxa vara and elevation of the greater trochanter of the femur comprise the typical ...[more]

PMID: 24949742

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Project description:BackgroundLegg-Calvé-Perthes disease (LCPD) is a common public health problem that usually occurs between the ages of 4 and 8 years, but it can occur between the ages of 2 and 15 years. This condition occurs due to the interruption of blood supply to the femoral head. Up to now, different surgical and nonsurgical treatments, including femoral varus osteotomy, innominate osteotomy, pelvic osteotomies, triple osteotomy, Chiari osteotomy, and shelf acetabuloplasty, have been suggested for noncontainable LCPD hips.ObjectiveThe aim of this comprehensive review was to investigate the various surgical techniques used for LCPD.MethodsAn advanced electronic search of the English-language literature was performed from October 8 to 14, 2020. The electronic databases PubMed, MEDLINE, Web of Science, Embase, Ovid, and Google scholar were searched using appropriate search terms. A manual search of references also was performed. After retrieving the studies, duplicates were removed, and the remining studies were screened based on the title, abstract, and full text. The quality of the selected articles was assessed, and the required data were extracted from eligible articles.ResultsA total of 22 studies were included in the review. Based on the results of the reviewed studies, there are three main factors that influence the treatment outcomes in patients with Perthes disease. These factors are onset age, femoral head involvement severity, and treatment method. The disease has a poor prognosis in children over 8 years old, but this group of patients can also benefit from advanced surgical methods. In patients aged less than 6 years, the disease has a generally good prognosis, but in those aged between 6 and 8 years, its prognosis is variable. Thus, the need for surgical intervention requires close observation of signs. Once any head signs are observed, dynamic arthrography is beneficial before choosing the treatment approach.ConclusionsThis review provides clinicians with a brief guideline for the treatment of patients with LCPD.