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Germinal mosaicism of PAX3 mutation caused Waardenburg syndrome type I.

Abstract Waardenburg syndrome mutations are most often recurrent or de novo. The rate of familial recurrence is low and families with several affected children are extremely rare. In this study, we aimed to clarify the underlying hereditary cause of Waardenburg syndrome type I in two siblings in a Chinese family, with a mother affected by prelingual mild hearing loss and a father who was negative for clinical symptoms of Waardenburg syndrome and had a normal hearing threshold.
PMID
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Authors

Mayor MeshTerms
Keywords

Deafness

Genetic counseling

Germinal mosaicism

Nonsense-mediated mRNA decay

Waardenburg syndrome

Journal Title international journal of pediatric otorhinolaryngology
Publication Year Start




PMID- 29287868
OWN - NLM
STAT- In-Process
LR  - 20171230
IS  - 1872-8464 (Electronic)
IS  - 0165-5876 (Linking)
VI  - 104
DP  - 2018 Jan
TI  - Germinal mosaicism of PAX3 mutation caused Waardenburg syndrome type I.
PG  - 200-204
LID - S0165-5876(17)30554-2 [pii]
LID - 10.1016/j.ijporl.2017.11.011 [doi]
AB  - OBJECTIVES: Waardenburg syndrome mutations are most often recurrent or de novo.
      The rate of familial recurrence is low and families with several affected
      children are extremely rare. In this study, we aimed to clarify the underlying
      hereditary cause of Waardenburg syndrome type I in two siblings in a Chinese
      family, with a mother affected by prelingual mild hearing loss and a father who
      was negative for clinical symptoms of Waardenburg syndrome and had a normal
      hearing threshold. METHODS: Complete characteristic features of the family
      members were recorded and genetic sequencing and parent-child relationship
      analyses were performed. RESULTS: The two probands were found to share double
      mutations in the PAX3/GJB2 genes that caused concurrent hearing loss in
      Waardenburg syndrome type I. Their mother carried the GJB2 c.109G > A homozygous 
      mutation; however, neither the novel PAX3 c.592delG mutation, nor the Waardenburg
      syndrome phenotype, was observed in either parent. CONCLUSION: These previously
      unreported digenic mutations in PAX3/GJB2 resulted in deafness associated with
      Waardenburg syndrome type I in this family. To our knowledge, this is the first
      report describing germinal mosaicism in Waardenburg syndrome. This concept is
      important because it complicates genetic counseling of this family regarding the 
      risk of recurrence of the mutations in subsequent pregnancies.
CI  - Copyright (c) 2017 Elsevier B.V. All rights reserved.
FAU - Chen, Kaitian
AU  - Chen K
AD  - Department of Otorhinolaryngology, The First Affiliated Hospital, Sun Yat-Sen
      University and Institute of Otorhinolaryngology, Sun Yat-sen University,
      Guangzhou 510080, PR China.
FAU - Zhan, Yuan
AU  - Zhan Y
AD  - Department of Otorhinolaryngology, The First Affiliated Hospital, Sun Yat-Sen
      University and Institute of Otorhinolaryngology, Sun Yat-sen University,
      Guangzhou 510080, PR China.
FAU - Wu, Xuan
AU  - Wu X
AD  - Department of Otorhinolaryngology, The First Affiliated Hospital, Sun Yat-Sen
      University and Institute of Otorhinolaryngology, Sun Yat-sen University,
      Guangzhou 510080, PR China.
FAU - Zong, Ling
AU  - Zong L
AD  - Department of Otorhinolaryngology, The Second Affiliated Hospital of Guangzhou
      Medical University, Guangzhou 510260, China.
FAU - Jiang, Hongyan
AU  - Jiang H
AD  - Department of Otorhinolaryngology, Hainan General Hospital, Haikou 570311, China.
      Electronic address: [email protected]
LA  - eng
PT  - Journal Article
DEP - 20171116
PL  - Ireland
TA  - Int J Pediatr Otorhinolaryngol
JT  - International journal of pediatric otorhinolaryngology
JID - 8003603
OTO - NOTNLM
OT  - Deafness
OT  - Genetic counseling
OT  - Germinal mosaicism
OT  - Nonsense-mediated mRNA decay
OT  - Waardenburg syndrome
EDAT- 2017/12/31 06:00
MHDA- 2017/12/31 06:00
CRDT- 2017/12/31 06:00
PHST- 2017/06/09 00:00 [received]
PHST- 2017/11/10 00:00 [revised]
PHST- 2017/11/14 00:00 [accepted]
PHST- 2017/12/31 06:00 [entrez]
PHST- 2017/12/31 06:00 [pubmed]
PHST- 2017/12/31 06:00 [medline]
AID - S0165-5876(17)30554-2 [pii]
AID - 10.1016/j.ijporl.2017.11.011 [doi]
PST - ppublish
SO  - Int J Pediatr Otorhinolaryngol. 2018 Jan;104:200-204. doi:
      10.1016/j.ijporl.2017.11.011. Epub 2017 Nov 16.