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Audiological findings in a de novo mutation of ANKRD11 gene in KBG syndrome: Report of a case and review of the literature.

Abstract KBG syndrome is a rare genetic disorder, due to a mutation of ANKRD11, characterized by specific craniofacial dysmorphism, short stature and macrodontia of upper central incisors, intellectual disability and skeletal anomalies. We report a de novo mutation of ANKRD11 gene in a 7-years old girl, affected by KBG syndrome with bilateral conductive hearing loss. The aim of this article was to review the audiological findings of this syndrome.
PMID
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Authors

Mayor MeshTerms
Keywords

ANKRD11

Hearing loss

KBG syndrome

Journal Title international journal of pediatric otorhinolaryngology
Publication Year Start




PMID- 29224748
OWN - NLM
STAT- MEDLINE
DCOM- 20180104
LR  - 20180104
IS  - 1872-8464 (Electronic)
IS  - 0165-5876 (Linking)
VI  - 103
DP  - 2017 Dec
TI  - Audiological findings in a de novo mutation of ANKRD11 gene in KBG syndrome:
      Report of a case and review of the literature.
PG  - 109-112
LID - S0165-5876(17)30481-0 [pii]
LID - 10.1016/j.ijporl.2017.10.017 [doi]
AB  - KBG syndrome is a rare genetic disorder, due to a mutation of ANKRD11,
      characterized by specific craniofacial dysmorphism, short stature and macrodontia
      of upper central incisors, intellectual disability and skeletal anomalies. We
      report a de novo mutation of ANKRD11 gene in a 7-years old girl, affected by KBG 
      syndrome with bilateral conductive hearing loss. The aim of this article was to
      review the audiological findings of this syndrome.
CI  - Copyright (c) 2017. Published by Elsevier B.V.
FAU - Bianchi, Pier Marco
AU  - Bianchi PM
AD  - Surgery Department, Otorhinolaryngology Unit, Bambino Gesu Paediatric Hospital,
      Scientific Research Institute, 00100 Rome, Italy. Electronic address:
      [email protected]
FAU - Bianchi, Alessandra
AU  - Bianchi A
AD  - NESMOS Department, ENT Clinic, Medicine and Psychology, Sapienza University,
      Rome, Italy.
FAU - Digilio, Maria Cristina
AU  - Digilio MC
AD  - Genetics and Rare Diseases Research Division, Bambino Gesu Paediatric Hospital,
      Scientific Research Institute, 00100 Rome, Italy.
FAU - Tucci, Filippo Maria
AU  - Tucci FM
AD  - Surgery Department, Otorhinolaryngology Unit, Bambino Gesu Paediatric Hospital,
      Scientific Research Institute, 00100 Rome, Italy.
FAU - Sitzia, Emanuela
AU  - Sitzia E
AD  - Surgery Department, Otorhinolaryngology Unit, Bambino Gesu Paediatric Hospital,
      Scientific Research Institute, 00100 Rome, Italy.
FAU - De Vincentiis, Giovanni Carlo
AU  - De Vincentiis GC
AD  - Surgery Department, Otorhinolaryngology Unit, Bambino Gesu Paediatric Hospital,
      Scientific Research Institute, 00100 Rome, Italy.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
DEP - 20171012
PL  - Ireland
TA  - Int J Pediatr Otorhinolaryngol
JT  - International journal of pediatric otorhinolaryngology
JID - 8003603
RN  - 0 (ANKRD11 protein, human)
RN  - 0 (Repressor Proteins)
RN  - KBG syndrome
SB  - IM
MH  - Abnormalities, Multiple/*diagnosis/genetics
MH  - Audiometry
MH  - Bone Diseases, Developmental/complications/*diagnosis/genetics
MH  - Child
MH  - Facies
MH  - Female
MH  - Hearing Loss, Conductive/*etiology
MH  - Humans
MH  - Intellectual Disability/complications/*diagnosis/genetics
MH  - Mutation
MH  - Phenotype
MH  - Repressor Proteins/*genetics
MH  - Tooth Abnormalities/complications/*diagnosis/genetics
OTO - NOTNLM
OT  - ANKRD11
OT  - Hearing loss
OT  - KBG syndrome
EDAT- 2017/12/12 06:00
MHDA- 2018/01/05 06:00
CRDT- 2017/12/12 06:00
PHST- 2017/07/26 00:00 [received]
PHST- 2017/09/10 00:00 [revised]
PHST- 2017/10/08 00:00 [accepted]
PHST- 2017/12/12 06:00 [entrez]
PHST- 2017/12/12 06:00 [pubmed]
PHST- 2018/01/05 06:00 [medline]
AID - S0165-5876(17)30481-0 [pii]
AID - 10.1016/j.ijporl.2017.10.017 [doi]
PST - ppublish
SO  - Int J Pediatr Otorhinolaryngol. 2017 Dec;103:109-112. doi:
      10.1016/j.ijporl.2017.10.017. Epub 2017 Oct 12.