Tc-99m MDP Bone SPECT/CT Findings of a Patient Detected with a New Mutation in LEMD3 Gene: A Case of Osteopoikilosis/LEMD3 Geninde Yeni Mutasyon Saptanan Osteopoikiloz Olgusunda Tc-99m MDP Kemik SPECT/BT Bulgulari

Osteopoikilosis is an inherited condition with autosomal dominant trait resulting in sclerotic foci throughout the skeleton. It has been suggested that loss-of-function mutations of LEMD3 gene located on 12q14.3 result in osetopoikilosis. A bp heterozygote deletion was detected in our patient at the...

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Bibliographic Details
Published in:Molecular imaging and radionuclide therapy 2018-02, Vol.27 (1), p.48
Main Authors: Silov, Guler, Erdogan, Zeynep, Erdogan, Murat, Ozdal, Aysegul, Gencer, Humeyra, Akalin, Tayfun, Karacavus, Seyhan
Format: Article
Language:English
Subjects:
Care and treatment
Development and progression
Gene expression
Gene mutation
Genetic aspects
Health aspects
Osteochondrodysplasias
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Summary:Osteopoikilosis is an inherited condition with autosomal dominant trait resulting in sclerotic foci throughout the skeleton. It has been suggested that loss-of-function mutations of LEMD3 gene located on 12q14.3 result in osetopoikilosis. A bp heterozygote deletion was detected in our patient at the cytosine nucleotide at position 1105 with molecular genetic analysis. Although this mutation has not been previously described, it was considered to be the most likely cause of the disease in our patient due to frame shift and premature stop codon formation. As in our case, three phase bone scintigraphy and whole body imaging did not reflect the true extent of lesion sites and lesion activity. SPECT/CT images could reflect lesion location and activity more accurately, and could be a good alternative for differential diagnosis of unexplained bone pain and sclerotic lesions in one examination. Keywords: LEMD3 gene, osteopoikilosis, Tc-99m MDP, SPECT/CT Oz Osteopoikiloz kemik doku boyunca kemik adaciklari ile karakterize, otozomal dominant gecis gosteren herediter bir hastaliktir. Mevcut literaturde, 12q14.3 uzerinde bulunan LEMD3 genindeki mutasyonlarin sebep oldugu gosterilmistir. Hastamizda yapilan molekuler genetik analizde 'Yeni Nesil Dizi Analizi' 1105. pozisyondaki sitozin nukleotidinde bir bp'lik heterozigot delesyon tespit edilmistir. Bu mutasyon, daha onceden literaturde tanimlanmamis olmakla birlikte; cerceve kaymasina neden olmasi ve erken stop kodon olusturmasi sebebiyle yuksek olasilikla hastalik nedeni olarak degerlendirilmistir. Ancak uc fazli kemik sintigrafisi ve tum vucut taramasi, bu olguda oldugu gibi gercek lezyon sayisi ve lezyon aktivitesini yansitmamaktadir. SPECT/BT goruntuleme bu acidan iyi bir secim olarak gorulmektedir. Anahtar kelimeler: LEMD3 geni, osteopoikiloz, Tc-99m MDP, SPECT/BT
ISSN:2146-1414