title: Dilated cardiomyopathy and ovarian dysgenesis in a patient with Malouf syndrome: a case report.
abstract: Malouf syndrome is a rare congenital disorder involving the heart, genitalia, skin and skeletal characteristics. In the present study, we report on the sporadic case of a young female with dilated cardiomyopathy, hypergonadotropic hypogonadism, a small chin, bilateral blepharoptosis, marfanoid elongated fingers and hypothyroidism. Malouf syndrome may be caused by heterozygous mutations in the lamin A/C (LMNA) gene. Genetic analyses and autopsy were performed. In spite of the patient's features, sequence analysis of the coding region of the LMNA gene including exon-intron boundaries identified only one benign polymorphism: homozygous silent variant 1698C>T (H566). There is a possibility that the sequence analysis may have not detected intronic mutations or mutations in portions of the 5'- and 3'-untranslated regions, which would confirm the clinical diagnosis.
authors.affiliation: Department of Obstetrics and Gynecology, University Medical Center Ljubljana, Ljubljana SI-1000, Slovenia.
authors.forename: Ksenija
authors.initials: K
authors.lastname: Gersak
authors.forename: Marusa
authors.initials: M
authors.lastname: Strgulc
authors.forename: Vojka
authors.initials: V
authors.lastname: Gorjup
authors.forename: Zvezdana
authors.initials: Z
authors.lastname: Dolenc-Strazar
authors.forename: Vesna
authors.initials: V
authors.lastname: Jurcic
authors.forename: Daniel J
authors.initials: DJ
authors.lastname: Penny
authors.forename: Yuxin
authors.initials: Y
authors.lastname: Fan
mesh_terms: D000328:Adult; D002311:Cardiomyopathy, Dilated / Q000150:complications / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D006059:Gonadal Dysgenesis / Q000150:complications / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics / Q000473:pathology; D006801:Humans; D007006:Hypogonadism / Q000150:complications / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics / Q000473:pathology; D034904:Lamin Type A / Q000235:genetics; D000083083:Laminopathies; D009154:Mutation / Q000235:genetics; D016649:Primary Ovarian Insufficiency / Q000175:diagnosis* / Q000209:etiology
chemical_list: C494847:LMNA protein, human; D034904:Lamin Type A