Prenatal diagnosis of auriculocondylar syndrome with a novel missense variant of GNAI3: a case report

Abstract Background Auriculocondylar syndrome (ACS) is a rare disorder characterized by micrognathia, mandibular condyle hypoplasia, and auricular abnormalities. Only 6 pathogenic variants of GNAI3 have been identified associated with ACS so far. Here, we report a case of prenatal genetic diagnosis...

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Autores principales:	Xiaoliang Liu, Wei Sun, Jun Wang, Guoming Chu, Rong He, Bijun Zhang, Yanyan Zhao
Formato:	article
Lenguaje:	EN
Publicado:	BMC 2021
Materias:	Auriculocondylar syndrome GNAI3 Craniofacial deformity Prenatal diagnosis Case report Gynecology and obstetrics RG1-991
Acceso en línea:	https://doaj.org/article/c2fa9b9572be4ebf84e7b9bbd08a10bf
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spelling	oai:doaj.org-article:c2fa9b9572be4ebf84e7b9bbd08a10bf2021-11-21T12:32:55ZPrenatal diagnosis of auriculocondylar syndrome with a novel missense variant of GNAI3: a case report10.1186/s12884-021-04238-x1471-2393https://doaj.org/article/c2fa9b9572be4ebf84e7b9bbd08a10bf2021-11-01T00:00:00Zhttps://doi.org/10.1186/s12884-021-04238-xhttps://doaj.org/toc/1471-2393Abstract Background Auriculocondylar syndrome (ACS) is a rare disorder characterized by micrognathia, mandibular condyle hypoplasia, and auricular abnormalities. Only 6 pathogenic variants of GNAI3 have been identified associated with ACS so far. Here, we report a case of prenatal genetic diagnosis of ACS carrying a novel GNAI3 variant. Case presentation A woman with 30 weeks of gestation was referred to genetic counseling for polyhydramnios and fetal craniofacial anomaly. Severe micrognathia and mandibular hypoplasia were identified on ultrasonography. The mandibular length was 2.4 cm, which was markedly smaller than the 95th percentile. The ears were low-set with no cleft or notching between the lobe and helix. The face was round with prominent cheeks. Whole-exome sequencing identified a novel de novo missense variant of c.140G > A in the GNAI3 gene. This mutation caused an amino acid substitution of p.Ser47Asn in the highly conserved G1 motif, which was predicted to impair the guanine nucleotide-binding function. All ACS cases with GNAI3 mutations were literature reviewed, revealing female-dominated severe cases and right-side-prone deformities. Conclusion Severe micrognathia and mandibular hypoplasia accompanied by polyhydramnios are prenatal indicators of ACS. We expanded the mutation spectrum of GNAI3 and summarized clinical features to promote awareness of ACS.Xiaoliang LiuWei SunJun WangGuoming ChuRong HeBijun ZhangYanyan ZhaoBMCarticleAuriculocondylar syndromeGNAI3Craniofacial deformityPrenatal diagnosisCase reportGynecology and obstetricsRG1-991ENBMC Pregnancy and Childbirth, Vol 21, Iss 1, Pp 1-7 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Auriculocondylar syndrome GNAI3 Craniofacial deformity Prenatal diagnosis Case report Gynecology and obstetrics RG1-991
spellingShingle	Auriculocondylar syndrome GNAI3 Craniofacial deformity Prenatal diagnosis Case report Gynecology and obstetrics RG1-991 Xiaoliang Liu Wei Sun Jun Wang Guoming Chu Rong He Bijun Zhang Yanyan Zhao Prenatal diagnosis of auriculocondylar syndrome with a novel missense variant of GNAI3: a case report
description	Abstract Background Auriculocondylar syndrome (ACS) is a rare disorder characterized by micrognathia, mandibular condyle hypoplasia, and auricular abnormalities. Only 6 pathogenic variants of GNAI3 have been identified associated with ACS so far. Here, we report a case of prenatal genetic diagnosis of ACS carrying a novel GNAI3 variant. Case presentation A woman with 30 weeks of gestation was referred to genetic counseling for polyhydramnios and fetal craniofacial anomaly. Severe micrognathia and mandibular hypoplasia were identified on ultrasonography. The mandibular length was 2.4 cm, which was markedly smaller than the 95th percentile. The ears were low-set with no cleft or notching between the lobe and helix. The face was round with prominent cheeks. Whole-exome sequencing identified a novel de novo missense variant of c.140G > A in the GNAI3 gene. This mutation caused an amino acid substitution of p.Ser47Asn in the highly conserved G1 motif, which was predicted to impair the guanine nucleotide-binding function. All ACS cases with GNAI3 mutations were literature reviewed, revealing female-dominated severe cases and right-side-prone deformities. Conclusion Severe micrognathia and mandibular hypoplasia accompanied by polyhydramnios are prenatal indicators of ACS. We expanded the mutation spectrum of GNAI3 and summarized clinical features to promote awareness of ACS.
format	article
author	Xiaoliang Liu Wei Sun Jun Wang Guoming Chu Rong He Bijun Zhang Yanyan Zhao
author_facet	Xiaoliang Liu Wei Sun Jun Wang Guoming Chu Rong He Bijun Zhang Yanyan Zhao
author_sort	Xiaoliang Liu
title	Prenatal diagnosis of auriculocondylar syndrome with a novel missense variant of GNAI3: a case report
title_short	Prenatal diagnosis of auriculocondylar syndrome with a novel missense variant of GNAI3: a case report
title_full	Prenatal diagnosis of auriculocondylar syndrome with a novel missense variant of GNAI3: a case report
title_fullStr	Prenatal diagnosis of auriculocondylar syndrome with a novel missense variant of GNAI3: a case report
title_full_unstemmed	Prenatal diagnosis of auriculocondylar syndrome with a novel missense variant of GNAI3: a case report
title_sort	prenatal diagnosis of auriculocondylar syndrome with a novel missense variant of gnai3: a case report
publisher	BMC
publishDate	2021
url	https://doaj.org/article/c2fa9b9572be4ebf84e7b9bbd08a10bf
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Prenatal diagnosis of auriculocondylar syndrome with a novel missense variant of GNAI3: a case report

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