KBG syndrome presenting with brachydactyly type E.

Abnormalities, Multiple / genetics Bone Diseases, Developmental / genetics Brachydactyly / genetics Facies Female Humans Intellectual Disability / genetics Karyotype Mutation / genetics Repressor Proteins / genetics Tooth Abnormalities / genetics Whole Genome Sequencing
ANKRD11 gene Brachydactyly type E KBG syndrome Skeletal disorder

Journal

Bone
ISSN: 1873-2763
Titre abrégé: Bone
Pays: United States
ID NLM: 8504048

Informations de publication

Date de publication:
06 2019
Historique:
received: 19 12 2018
revised: 05 03 2019
accepted: 11 03 2019
pubmed: 17 3 2019
medline: 21 7 2020
entrez: 17 3 2019
Statut: ppublish

Résumé

We report the case of a young woman who presented at age 10 years with height on the tenth centile, brachydactyly type E and mild developmental delay. Biochemistry and hormonal profiles were normal. Differential diagnoses considered included Albright hereditary osteodystrophy without hormone resistance (a.k.a pseudopseudohypoparathyroidism), 2q37 microdeletion syndrome and acrodysostosis. She had a normal karyotype and normal FISH of 2q37. Whole genome sequencing (WGS) identified a mutation in the ANKRD11 gene associated with KBG syndrome. We review the clinical features of the genetic syndromes considered, and suggest KBG syndrome be considered in patients presenting with syndromic brachydactyly type E, especially if short stature and developmental delay are also present.

Identifiants

DOI: 10.1016/j.bone.2019.03.012 PMID: 30877071
pubmed: 30877071
pii: S8756-3282(19)30088-2
doi: 10.1016/j.bone.2019.03.012
pii:
doi:

Substances chimiques

ANKRD11 protein, human 0
Repressor Proteins 0

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

18-22

Informations de copyright

Copyright © 2019 Elsevier Inc. All rights reserved.

Auteurs

Renata Libianto (R)

Bone Division, Garvan Institute of Medical Research, Sydney, Australia; Department of Endocrinology, St Vincent's Hospital Sydney, Australia; Department of Medicine, The University of Melbourne, Australia. Electronic address: renata.libianto@monash.edu.

Kathy Hc Wu (KH)

Clinical Genomics Unit, St Vincent's Hospital Sydney, Australia; Discipline of Genetic Medicine, University of Sydney, Australia; School of Medicine, UNSW, Sydney, Australia; Genomics and Epigenetics Division, Garvan Institute of Medical Research, Sydney, Australia.

Sophie Devery (S)

Clinical Genomics Unit, St Vincent's Hospital Sydney, Australia.

John A Eisman (JA)

Bone Division, Garvan Institute of Medical Research, Sydney, Australia; Department of Endocrinology, St Vincent's Hospital Sydney, Australia; School of Medicine, UNSW, Sydney, Australia; School of Medicine Sydney, University of Notre Dame, Australia.

Jackie R Center (JR)

Bone Division, Garvan Institute of Medical Research, Sydney, Australia; Department of Endocrinology, St Vincent's Hospital Sydney, Australia; School of Medicine, UNSW, Sydney, Australia; School of Medicine Sydney, University of Notre Dame, Australia.

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Classifications MeSH

questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations multiples › KBG syndrome presenting with brachydactyly type E.
questionsmedicales.fr › Maladies ostéomusculaires › Maladies osseuses › Dysplasies osseuses › KBG syndrome presenting with brachydactyly type E.
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations de l'appareil locomoteur › Anomalies morphologiques congénitales des membres › Brachydactylie › KBG syndrome presenting with brachydactyly type E.
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Examen physique › Faciès › KBG syndrome presenting with brachydactyly type E.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › KBG syndrome presenting with brachydactyly type E.
questionsmedicales.fr › Troubles mentaux › Troubles du développement neurologique › Déficience intellectuelle › KBG syndrome presenting with brachydactyly type E.
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Chromosomes › Caryotype › KBG syndrome presenting with brachydactyly type E.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › KBG syndrome presenting with brachydactyly type E.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Protéines de répression › KBG syndrome presenting with brachydactyly type E.
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations du système stomatognathique › Malformations dentaires › KBG syndrome presenting with brachydactyly type E.
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Séquençage du génome entier › KBG syndrome presenting with brachydactyly type E.