Legg-Calve-Perthes Disease in Two Generations of Male Family Members: A Case Report

Alomran, Ammar K.; Sadat-Ali, Mir

doi:10.1177/230949901302100230

Cited by 20 publications

(17 citation statements)

References 14 publications

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“…COL2A1 mutations were also found in patients with a familial form of Legg‐Calve‐Perthes (MIM150600) disease and avascular necrosis of a femoral head (MIM 608805), (Al‐Omran & Sadat‐Ali, ; Andersen, Schantz, Bollerslev, & Justesen, ; Griffiths & Witherow, ; Li et al, ). Liu et al () reported three families with avascular necrosis of a femoral head caused by (p.Gly717Ser) and (p.Gly1170Ser) substitutions.…”

Section: Discussionmentioning

confidence: 99%

Exome sequencing reveals a novel COL2A1 mutation implicated in multiple epiphyseal dysplasia

Dasa

Eastwood

Podgórski

et al. 2019

American J of Med Genetics Pt A

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Mutations in the COMP, COL9A1, COL9A2, COL9A3, MATN3, and SLC26A2 genes cause approximately 70% of multiple epiphyseal dysplasia (MED) cases. The genetic changes involved in the etiology of the remaining cases are still unknown, suggesting that other genes contribute to MED development. Our goal was to identify a mutation causing an autosomal dominant form of MED in a large multigenerational family. Initially, we excluded all genes known to be associated with autosomal dominant MED by using microsatellite and SNP markers. Follow-up with wholeexome sequencing analysis revealed a mutation c.2032G>A (p.Gly678Arg) in the COL2A1 gene (NCBI Reference Sequence: NM_001844.4), which co-segregated with the disease phenotype in this family, manifested by severe hip dysplasia and osteoarthritis. One of the affected family members had a double-layered patella, which is frequently seen in patients with autosomal recessive MED caused by DTDST mutations and sporadically in the dominant form of MED caused by COL9A2 defect. K E Y W O R D Sdouble-layered patella, multiple epiphyseal dysplasia, novel mutation in COL2A1

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Section: Discussionmentioning

confidence: 99%

Exome sequencing reveals a novel COL2A1 mutation implicated in multiple epiphyseal dysplasia

Dasa

Eastwood

Podgórski

et al. 2019

American J of Med Genetics Pt A

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“…Over 200 mutations have been identified in the COL2A1 gene, and the majority of these mutations have been associated with the replacement of Gly residues in the triple helix domain ( 13 ). In recent decades, an increasing number of studies have indicated that mutations in the COL2A1 gene are associated with familial or inherited ANFH ( 8 , 14 – 20 ). However, at present, no mutation hotspot has been confirmed.…”

Section: Introductionmentioning

confidence: 99%

COL2A1 mutation (c.3508G>A) leads to avascular necrosis of the femoral head in a Chinese family: A case report

et al. 2018

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Avascular necrosis of the femoral head (ANFH) is a consequence of ischemia. Although the majority of cases of ANFH are sporadic, certain familial cases of ANFH have been reported to be associated with collagen type II α1 chain (COL2A1) mutations, which lead to COL2A1 gene dysfunction. The structure of secreted type II collagen contains a core area with a triple helical glycine (Gly)-X-Y domain, and the replacement of Gly in this region as a result of COL2A1 mutations may damage the structure of type II collagen. In the present study, a Chinese family with ANFH was recruited and genetic analysis was conducted to determine whether COL2A1 mutations were implicated in this familial ANFH. A three-generation family containing 31 members, as well as 20 patients with sporadic ANFH, were recruited for investigation. The diagnosis was performed by independent surgeons and radiologists according to internationally recognized criteria. In the present study, a heterozygous c.3508G>A mutation in exon 50 of the COL2A1 gene was identified, which results in the substitution of Gly with serine at codon 1,170. Furthermore, genetic pedigree analysis indicated that this mutation was inherited in an autosomal dominant manner. The present study revealed that a heterozygous c.3508G>A mutation in the COL2A1 gene was involved in ANFH development in one Chinese family. Therefore, it is proposed that individuals who carry this c.3508G>A mutation in the COL2A1 gene should receive genetic counseling and early intervention for ANFH.

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“…The etiology of LCPD is unknown but is thought to result from vascular congestion and/or coagulation abnormalities in the circulation of the proximal femur [ 2 , 3 ]. The diagnosis has been associated with behavioral disorders [ 4 ], cigarette smoking [ 5 ], femoral and acetabular morphology [ 6 ], genitourinary anomalies [ 7 ], genetics [ 8 ], geography [ 1 ], childhood deprivation [ 9 , 10 ], and high-impact activities such as gymnastics [ 11 , 12 ].…”

Section: Introductionmentioning

confidence: 99%

The presentation of Legg−Calvé−Perthes disease in females

Georgiadis

Seeley

Yellin

et al. 2015

Journal of Children's Orthopaedics

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PurposeLegg−Calvé−Perthes disease (LCPD) is uncommon in girls. The presentation of LCPD in female patients has been reported as later in onset and associated with certain high-impact activities. Our aim is to characterize the presentation of female LCPD at a large center, with particular attention to the clinical and radiographic features of late-onset disease (>ten years of age). We perceived an increasing burden of late-onset disease with adult-like radiographic features.MethodsAll patients presenting to a single large urban children’s hospital from 1990−2014 with a diagnosis of LCPD were reviewed. Demographic, clinical, and radiographic data for all female patients were examined and compared to historical norms.ResultsFour-hundred and fifty-one patients presented with LCPD in the study period, of which 82 (18.2 %) were female. The average age at presentation was 6.58 years in girls, which is similar to the classically reported mean age. Fourteen patients participated in high-impact repetitive activities or those with deep flexion and abduction, although few were late presenters. There were four female patients who presented for initial diagnosis >ten years of age.ConclusionsThere was a paucity of late-onset LCPD in girls in the study population, and the females with LCPD had a very similar age and character to their presentation as did males. Although their presentation is infrequent, three of four older females with LCPD were engaged in high-level physical activity, and their disease may be attributed to high-impact, repetitive athletics.Level of evidenceCase series, Level IV.

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Legg-Calve-Perthes Disease in Two Generations of Male Family Members: A Case Report

Cited by 20 publications

References 14 publications

Exome sequencing reveals a novel COL2A1 mutation implicated in multiple epiphyseal dysplasia

Exome sequencing reveals a novel COL2A1 mutation implicated in multiple epiphyseal dysplasia

COL2A1 mutation (c.3508G>A) leads to avascular necrosis of the femoral head in a Chinese family: A case report

The presentation of Legg−Calvé−Perthes disease in females

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