Homozygous EDNRB mutation in a patient with Waardenburg syndrome type 1
Abstract Objective To examine and expand the genetic spectrum of Waardenburg syndrome type 1 (WS1). Methods Clinical features related to Waardenburg syndrome (WS) were examined in a five-year old patient. Mutation analysis of genes related to WS was performed in the proband and her parents. Molecula...
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Published in | Auris, nasus, larynx Vol. 45; no. 2; pp. 222 - 226 |
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Main Authors | , , , , , |
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Language | English |
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01.04.2018
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Abstract | Abstract Objective To examine and expand the genetic spectrum of Waardenburg syndrome type 1 (WS1). Methods Clinical features related to Waardenburg syndrome (WS) were examined in a five-year old patient. Mutation analysis of genes related to WS was performed in the proband and her parents. Molecular modeling of EDNRB and the p.R319W mutant was conducted to predict the pathogenicity of the mutation. Results The proband showed sensorineural hearing loss, heterochromia iridis, and dystopia canthorum, fulfilling the clinical criteria of WS1. Genetic analyses revealed that the proband had no mutation in PAX3 which has been known as the cause of WS1, but had a homozygous missense mutation (p.R319W) in endothelin receptor type B ( EDNRB ) gene. The asymptomatic parents had the mutation in a heterozygote state. This mutation has been previously reported in a heterozygous state in a patient with Hirschsprung’s disease unaccompanied by WS, but the patient and her parents did not show any symptoms in gastrointestinal tract. Molecular modeling of EDNRB with the p.R319W mutation demonstrated reduction of the positively charged surface area in this region, which might reduce binding ability of EDNRB to G protein and lead to abnormal signal transduction underlying the WS phenotype. Conclusions Our findings suggested that autosomal recessive mutation in EDNRB may underlie a part of WS1 with the current diagnostic criteria, and supported that Hirschsprung’s disease is a multifactorial genetic disease which requires additional factors. Further molecular analysis is necessary to elucidate the gene interaction and to reappraise the current WS classification. |
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AbstractList | To examine and expand the genetic spectrum of Waardenburg syndrome type 1 (WS1).
Clinical features related to Waardenburg syndrome (WS) were examined in a five-year old patient. Mutation analysis of genes related to WS was performed in the proband and her parents. Molecular modeling of EDNRB and the p.R319W mutant was conducted to predict the pathogenicity of the mutation.
The proband showed sensorineural hearing loss, heterochromia iridis, and dystopia canthorum, fulfilling the clinical criteria of WS1. Genetic analyses revealed that the proband had no mutation in PAX3 which has been known as the cause of WS1, but had a homozygous missense mutation (p.R319W) in endothelin receptor type B (EDNRB) gene. The asymptomatic parents had the mutation in a heterozygote state. This mutation has been previously reported in a heterozygous state in a patient with Hirschsprung’s disease unaccompanied by WS, but the patient and her parents did not show any symptoms in gastrointestinal tract. Molecular modeling of EDNRB with the p.R319W mutation demonstrated reduction of the positively charged surface area in this region, which might reduce binding ability of EDNRB to G protein and lead to abnormal signal transduction underlying the WS phenotype.
Our findings suggested that autosomal recessive mutation in EDNRB may underlie a part of WS1 with the current diagnostic criteria, and supported that Hirschsprung’s disease is a multifactorial genetic disease which requires additional factors. Further molecular analysis is necessary to elucidate the gene interaction and to reappraise the current WS classification. OBJECTIVETo examine and expand the genetic spectrum of Waardenburg syndrome type 1 (WS1).METHODSClinical features related to Waardenburg syndrome (WS) were examined in a five-year old patient. Mutation analysis of genes related to WS was performed in the proband and her parents. Molecular modeling of EDNRB and the p.R319W mutant was conducted to predict the pathogenicity of the mutation.RESULTSThe proband showed sensorineural hearing loss, heterochromia iridis, and dystopia canthorum, fulfilling the clinical criteria of WS1. Genetic analyses revealed that the proband had no mutation in PAX3 which has been known as the cause of WS1, but had a homozygous missense mutation (p.R319W) in endothelin receptor type B (EDNRB) gene. The asymptomatic parents had the mutation in a heterozygote state. This mutation has been previously reported in a heterozygous state in a patient with Hirschsprung's disease unaccompanied by WS, but the patient and her parents did not show any symptoms in gastrointestinal tract. Molecular modeling of EDNRB with the p.R319W mutation demonstrated reduction of the positively charged surface area in this region, which might reduce binding ability of EDNRB to G protein and lead to abnormal signal transduction underlying the WS phenotype.CONCLUSIONSOur findings suggested that autosomal recessive mutation in EDNRB may underlie a part of WS1 with the current diagnostic criteria, and supported that Hirschsprung's disease is a multifactorial genetic disease which requires additional factors. Further molecular analysis is necessary to elucidate the gene interaction and to reappraise the current WS classification. Abstract Objective To examine and expand the genetic spectrum of Waardenburg syndrome type 1 (WS1). Methods Clinical features related to Waardenburg syndrome (WS) were examined in a five-year old patient. Mutation analysis of genes related to WS was performed in the proband and her parents. Molecular modeling of EDNRB and the p.R319W mutant was conducted to predict the pathogenicity of the mutation. Results The proband showed sensorineural hearing loss, heterochromia iridis, and dystopia canthorum, fulfilling the clinical criteria of WS1. Genetic analyses revealed that the proband had no mutation in PAX3 which has been known as the cause of WS1, but had a homozygous missense mutation (p.R319W) in endothelin receptor type B ( EDNRB ) gene. The asymptomatic parents had the mutation in a heterozygote state. This mutation has been previously reported in a heterozygous state in a patient with Hirschsprung’s disease unaccompanied by WS, but the patient and her parents did not show any symptoms in gastrointestinal tract. Molecular modeling of EDNRB with the p.R319W mutation demonstrated reduction of the positively charged surface area in this region, which might reduce binding ability of EDNRB to G protein and lead to abnormal signal transduction underlying the WS phenotype. Conclusions Our findings suggested that autosomal recessive mutation in EDNRB may underlie a part of WS1 with the current diagnostic criteria, and supported that Hirschsprung’s disease is a multifactorial genetic disease which requires additional factors. Further molecular analysis is necessary to elucidate the gene interaction and to reappraise the current WS classification. |
Author | Namba, Kazunori Kosaki, Rika Matsunaga, Tatsuo Kaneko, Hiroki Morimoto, Noriko Mutai, Hideki |
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Cites_doi | 10.1002/(SICI)1096-8628(19991105)87:1<69::AID-AJMG14>3.0.CO;2-R 10.1016/0092-8674(94)90016-7 10.1093/nar/gkn750 10.1002/jcc.20084 10.1021/bi051729t 10.1002/humu.21211 10.1371/journal.pone.0024086 10.1136/jmg.34.8.656 10.1152/ajpcell.1999.276.4.C930 10.1006/bbrc.2000.3291 10.1093/hmg/5.3.355 10.1093/bioinformatics/bti770 10.1093/hmg/4.12.2407 10.1038/nature10361 10.1242/dev.02375 10.1074/jbc.M208683200 |
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Keywords | EDNRB Waardenburg syndrome Dystopia canthorum Hirschsprung’s disease Hearing loss |
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Snippet | Abstract Objective To examine and expand the genetic spectrum of Waardenburg syndrome type 1 (WS1). Methods Clinical features related to Waardenburg syndrome... To examine and expand the genetic spectrum of Waardenburg syndrome type 1 (WS1). Clinical features related to Waardenburg syndrome (WS) were examined in a... OBJECTIVETo examine and expand the genetic spectrum of Waardenburg syndrome type 1 (WS1).METHODSClinical features related to Waardenburg syndrome (WS) were... |
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SubjectTerms | Dystopia canthorum EDNRB Hearing loss Hirschsprung’s disease Otolaryngology Waardenburg syndrome |
Title | Homozygous EDNRB mutation in a patient with Waardenburg syndrome type 1 |
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