ICCBH2017 Poster Presentations (1) (209 abstracts)
A case of a novel de novo PLS3 deletion, presenting with vertebral fractures and mild dysmorphism
A. Doulgeraki 1 , A. Costantini 2 , A. Kämpe 2 , E. Karavitakis 3 , N. Jäntti 2 , P. Krallis 4 , H. Athanasopoulou 1 , A. Xaidara 5 & O. Mäkitie 2
1Department of bone and mineral metabolism, Institute of child health, Athens, Greece; 2Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; 3Department of Paediatrics, General Hospital of Chania, Chania, Greece; 42nd Paediatric Orthopaedic Clinic, Agia Sophia Children’s Hospital, Athens, Greece; 51st Paediatric University clinic, Agia Sophia Children’s Hospital, Athens, Greece.
Background: Mutations in the PLS3 gene, encoding plastin 3, cause X-linked osteoporosis. Osteoporosis is characterized by low bone mineral density (BMD) and increased susceptibility to fractures. Here we describe a 7-year-old boy with osteoporosis due to a novel PLS3 deletion.
Presenting problem: The patient, born to non-consanguineous parents, had a history of one low-energy long-bone fracture, three vertebral fractures (T5, T6 T8) and kyphosis. DXA scan showed decreased BMD, both at the lumbar spine (Z-score −3.5) and for the whole body less head (Z-score −2.2). His bones had normal length but they were thin and the whole body BMC/LTM ratio was low. He had had surgery for pyloric stenosis and right-sided cryptorchidism. His growth was normal but he had blue sclerae, joint hypermobility and epicanthus, narrow external ear canals, mild micrognathia and high-arched palate. There was no family history of osteoporosis.
Clinical management: Genetic tests for COL1A1 and COL1A2 were negative. Sanger sequencing of PLS3 detected a novel de novo hemizygous deletion in exon 10 (c.1097_1101delACTTA). This deletion causes a stop codon at p.Ala371* and is likely to lead to a lack of protein due to nonsense-mediated mRNA decay. Both parents were negative for the deletion. The patient is currently on oral treatment with bisphosphonate (alendronate, 35 mg/week), swims regularly and receives adequate calcium and vitamin D through his diet. He is reviewed every six months (clinical examination and metabolic bone profile).
Discussion: We identified a novel PLS3 deletion causing bone fragility in our index patient. This finding emphasizes the importance of screening of the PLS3 gene for mutations in cases of early-onset osteoporosis not caused by mutations in type I collagen. It needs to be addressed in future studies whether our patient’s other features are related to the PLS3 mutation.
Funding: This study was funded by Swedish Research Council.
Disclosure: The authors declared no competing interests.
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