title: Importance of neurologic and cutaneous signs in the diagnosis of Schimke immuno-osseous dysplasia.
abstract: Schimke immuno-osseous dysplasia is an autosomal recessive multisystem disorder caused by defects in SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1 gene (SMARCAL1). SMARCAL1 product is a helicase that has role in selective cellular proliferation. The disorder is characterized by spondyloepiphyseal dysplasia with short stature, nephropathy, T cell deficiency, neurologic and cutaneous signs. Patients may have hyperpigmented skin lesions similar to café au lait spots. Symptoms and disease severity in Schimke immuno-osseous dysplasia varies from patient to patient. Genetic, epigenetic and environmental factors play role on the severity of the disease. Here we report on a patient with short stature, steroid resistant nephrotic syndrome and recurrent infections. Cutaneous findings and developmental delay helped us to reach the diagnosis of Schimke immuno-osseous dysplasia. A homozygous missense mutation in SMARCAL1 gene confirmed the clinical diagnosis.
authors.affiliation: Division of Pediatric Neurology, Department of Pediatrics, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey. ulyis@yahoo.com.
authors.forename: Ayşe İpek
authors.initials: Aİ
authors.lastname: Polat
authors.forename: Uluç
authors.initials: U
authors.lastname: Yiş
authors.forename: Müge
authors.initials: M
authors.lastname: Ayanoğlu
authors.forename: Ayşe Semra
authors.initials: AS
authors.lastname: Hız
authors.forename: Handan
authors.initials: H
authors.lastname: Güleryüz
authors.forename: Tülay
authors.initials: T
authors.lastname: Öztürk Atasoy
authors.forename: Cornelius F
authors.initials: CF
authors.lastname: Boerkoel
mesh_terms: D001161:Arteriosclerosis / Q000175:diagnosis* / Q000235:genetics; D002675:Child, Preschool; D004265:DNA Helicases / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D020125:Mutation, Missense; D009404:Nephrotic Syndrome / Q000175:diagnosis* / Q000235:genetics; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000235:genetics; D000081207:Primary Immunodeficiency Diseases; D011655:Pulmonary Embolism / Q000175:diagnosis* / Q000235:genetics; D012867:Skin / Q000473:pathology*
chemical_list: C412482:SMARCAL1 protein, human; D004265:DNA Helicases