title: Expanding the phenotype of feingold syndrome-2.
abstract: Feingold syndrome-2 has been recently shown to be caused by germline heterozygous deletions of MIR17HG with 10 reported patients to date. Manifestations common to both Feingold syndrome-1 and Feingold syndrome-2 include microcephaly, short stature, and brachymesophalangy; but those with Feingold syndrome-2 lack gastrointestinal atresias. Here we describe a 14-year-old male patient who presented to our Cardiovascular Genetics Clinic with a history of a bicuspid aortic valve with aortic stenosis, short stature, hearing loss, and mild learning disabilities. Upon examination he was noted to have dysmorphic features and brachydactyly of his fingers and toes. His head circumference was 54.5 cm (25th-50th centile) and his height was 161.3 cm (31st centile) after growth hormone therapy. A skeletal survey noted numerous abnormalities prompting suspicion for Feingold syndrome. A comparative genomic hybridization microarray was completed and a ∼3.6 Mb interstitial heterozygous deletion at 13q31.3 including MIR17HG was found consistent with Feingold syndrome-2. Clinically, this patient has the characteristic digital anomalies and short stature often seen in Feingold syndrome-2 with less common features of a congenital heart defect and hearing loss. Although non-skeletal features have been occasionally reported in Feingold syndrome-1, only one other patient with a 13q31 microdeletion including MIR17HG has had non-skeletal manifestations. Additionally, our patient does not have microcephaly and, to our knowledge, is the first reported pediatric patient with Feingold syndrome-2 without this feature. This report illustrates significant phenotypic variability within the clinical presentation of Feingold syndrome-2 and highlights considerable overlap with Feingold syndrome-1.
authors.affiliation: Division of Clinical Genetics, Children's Mercy Hospital, University of Missouri-Kansas City School of Medicine, Kansas City, Missouri.
authors.forename: Lauren E
authors.initials: LE
authors.lastname: Grote
authors.affiliation: Cytogenetics and Molecular Genetics Laboratories, Children's Mercy Hospital, University of Missouri-Kansas City School of Medicine, Kansas City, Missouri.
authors.forename: Elena A
authors.initials: EA
authors.lastname: Repnikova
authors.affiliation: Division of Clinical Genetics, Children's Mercy Hospital, University of Missouri-Kansas City School of Medicine, Kansas City, Missouri.
authors.forename: Shivarajan M
authors.initials: SM
authors.lastname: Amudhavalli
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000293:Adolescent; D001024:Aortic Valve Stenosis / Q000151:congenital / Q000235:genetics / Q000473:pathology*; D059327:Brachydactyly / Q000235:genetics / Q000473:pathology*; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D055028:Comparative Genomic Hybridization; D004392:Dwarfism / Q000235:genetics / Q000473:pathology*; D005385:Fingers / Q000002:abnormalities* / Q000473:pathology; D034381:Hearing Loss / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008297:Male; D035683:MicroRNAs / Q000235:genetics; D011379:Prognosis; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated / Q000235:genetics; D014034:Toes / Q000002:abnormalities* / Q000473:pathology
chemical_list: C568997:MIR17HG, human; D035683:MicroRNAs; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated
keywords: Feingold syndrome; MIR17HG; brachymesophalangy; microcephaly; short stature