Identification of a novel LEMD3 Y871X mutation in a three-generation family with osteopoikilosis and review of the literature

Zhang, Q.; Zhang, Mo; Dong, Chunhong; Yang, Fang; Xie, Yinlong; Park, Jin

doi:10.1007/s40618-015-0419-z

Cited by 9 publications

(6 citation statements)

References 37 publications

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“…Another case describing the absence of LEMD3 mutation in an affected family may indicate the genetic heterogeneity of Buschke–Ollendorff syndrome [13]. Thus far, more than 22 mutations have been identified in the LEMD3 gene [14]. …”

Section: Discussionmentioning

confidence: 99%

The Buschke–Ollendorff syndrome: a case report of simultaneous osteo-cutaneous malformations in the hand

et al. 2016

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BackgroundWe describe a male with functionally impairing radial deviation of the thumb who presented to us at 24 years of age. Two sclerotic skin lesions had been excised 7 years before because of consecutive skin contracture. Latest radiological examination showed a spotted pattern consistent with osteopoikilosis.Case presentationA corrective osteotomy of the thumb was carried out due to the patients discomfort. Facing the simultaneous osteo-cutaneous malformation we postulated a Buschke–Ollendorff syndrome. Buschke–Ollendorff syndrome is a rare autosomal-dominant hereditary disorder of connective tissue with typical osteo-cutaneous manifestations. To explore our hypothesis, biopsies were taken from the affected bone lesions and surrounding skin and soft tissue for histological investigation and genetic testing of the LEMD3 gene was performed on blood of the patient. The histology showed typical changes of the bone architecture and a fibrotic collagenous nodule of the skin. The genetic testing on DNA extracted from peripheral blood leucocytes confirmed a heterozygous loss of function mutation in the LEM domain-containing protein 3 (LEMD3) gene coding for the inner nuclear membrane protein MAN1, which causes osteopoikilosis by antagonizing transforming growth factor β (TGF-β) and bone morphogenetic protein (BMP) signalling.ConclusionsIn atypical cases of simultaneous occurrence of fibrotic skin lesions and a spotted pattern in the X-ray we recommend the genetic screening of the LEMD3 gene. A correct diagnosis of Buschke–Ollendorff syndrome is necessary to spare patients from expensive investigations and to provide reassurance about the benign nature of the disease.

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Section: Discussionmentioning

confidence: 99%

The Buschke–Ollendorff syndrome: a case report of simultaneous osteo-cutaneous malformations in the hand

et al. 2016

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“…To date, many variants of LEMD3 have been found, including nonsense, frame-shift, and splice site defects resulting in exon skipping, as was found in this case [ 12 ]. However, no phenotype-specific variants have been found in the LEMD3 gene [ 13 ].…”

Section: Discussionmentioning

confidence: 99%

Novel 4-bp Intronic Deletion (c.1560+3_1560+6del) in LEMD3 in a Korean Patient With Osteopoikilosis

Yoo

Song

et al. 2017

Ann Lab Med

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Osteopoikilosis is an autosomal dominant bone disorder characterized by symmetric multiple osteosclerotic lesions throughout the axial and appendicular skeleton. Pathogenic variants in the LEMD3 have been identified as the cause of osteopoikilosis. LEMD3 encodes an inner nuclear membrane protein that interacts with bone morphogenetic protein (BMP) and transforming growth factor (TGF)-β pathways. We report the case of a 19-year-old man presenting with lower back pain and sciatica. His radiograph revealed bilateral and symmetrical multiple osteosclerotic bone lesions in both scapular areas. Sanger sequencing of LEMD3 revealed a four-base-pair deletion in intron 2 (c.1560+3_1560+6del), which was inherited from his father. We found that this four-base-pair deletion in intron 2 causes aberrant splicing and consequent deletion of exon 2. To the best of our knowledge, this is the first report of genetically confirmed osteopoikilosis in Korea.

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“…Pain is not a dominant feature of OPK but in 15%-20% of patients, slight joint pain and eff usion have been reported. 5 Patients with OPK should be monitored since-although the clinical course is benign-occasional complications or coexisting pathological conditions have been reported including premyelopathic syndrome due to spinal canal stenosis, hip fracture, malignant degeneration, and other disorders requiring medical surveillance. 6 It is common to consider diseases that aff ect the musculoskeletal system such as rheumatoid arthritis, vitamin deficiencies, fibromyalgia, etc.…”

Section: Discussionmentioning

confidence: 99%

A Rare Cause of Polyarthralgia : Osteopoikilosis

Turan¹,

Anil²,

Akaltun³

et al. 2021

Sakarya Medical Journal

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Osteopoikilosis or spotted bone disease is a rare bone dysplasia of unknown etiology. It is characterized by an abnormality in bone maturation process and often found incidentally on radiologic examination. This disease, which has an autosomal dominant inheritance, has numerous, annular or oval, sclerotic lesions with regular borders. Although it is frequently asymptomatic, rarely polyarthralgia and joint swelling may occur. In this case, we aimed to show that the etiology may be a rare syndrome such as osteopoikilosis in the patient with the complaint of polyarthralgia.

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Identification of a novel LEMD3 Y871X mutation in a three-generation family with osteopoikilosis and review of the literature

Abstract: We identified a new mutation in LEMD3 gene, accounting for the familial case of osteopoikilosis. In addition we also review the clinical manifestation, diagnosis and treatment of osteopoikilosis.

Cited by 9 publications

References 37 publications

The Buschke–Ollendorff syndrome: a case report of simultaneous osteo-cutaneous malformations in the hand

The Buschke–Ollendorff syndrome: a case report of simultaneous osteo-cutaneous malformations in the hand

Novel 4-bp Intronic Deletion (c.1560+3_1560+6del) in LEMD3 in a Korean Patient With Osteopoikilosis

A Rare Cause of Polyarthralgia : Osteopoikilosis

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