Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.

doi:10.1136/jmedgenet-2012-101331

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Article

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.

Journal of medical genetics - 1 Mar 2013

Gordon Christopher T, Vuillot Alice, Marlin Sandrine, Gerkes Erica, Henderson Alex, AlKindy Adila, Holder-Espinasse Muriel, Park Sarah S, Omarjee Asma, Sanchis-Borja Mateo, Bdira Eya Ben, Oufadem Myriam, Sikkema-Raddatz Birgit, Stewart Alison, Palmer Rodger, McGowan Ruth, Petit Florence, Delobel Bruno, Speicher Michael R, Aurora Paul, Kilner David, Pellerin Philippe, Simon Marie, Bonnefont Jean-Paul, Tobias Edward S, García-Miñaúr Sixto, Bitner-Glindzicz Maria, Lindholm Pernille, Meijer Brigitte A, Abadie Véronique, Denoyelle Françoise, Vazquez Marie-Paule, Rotky-Fast Christa, Couloigner Vincent, Pierrot Sébastien, Manach Yves, Breton Sylvain, Hendriks Yvonne M C, Munnich Arnold, Jakobsen Linda, Kroisel Peter, Lin Angela, Kaban Leonard B, Basel-Vanagaite Lina, Wilson Louise, Cunningham Michael L, Lyonnet Stanislas, Amiel Jeanne

Abstract excerpt

BACKGROUND: Auriculocondylar syndrome (ACS) is a rare craniofacial disorder consisting of micrognathia, mandibular condyle hypoplasia and a specific malformation of the ear at the junction between the lobe and helix. Missense heterozygous mutations in the phospholipase C, β 4 (PLCB4) and guanine nucleotide binding protein (G protein), α inhibiting activity polypeptide 3 (GNAI3) genes have recently been identified...

Topics

Adult
Child
Child, Preschool
DNA Mutational Analysis
Ear

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Ear Diseases

Female

GTP-Binding Protein alpha Subunits, Gi-Go

Genetic Predisposition to Disease

Humans

Infant

Male

Mutation

Pedigree

Phospholipase C beta

Polymerase Chain Reaction

Source

Open in PubMed

Identifiers

PMID: 23315542
DOI: 10.1136/jmedgenet-2012-101331

Genes

PLCB4
GNAI3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.PMID 23315542Read ↗

Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.Semantic proximity Read ↗

Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations.Semantic proximity Read ↗

Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation.Semantic proximity Read ↗

A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity.Semantic proximity Read ↗

A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.Semantic proximity Read ↗

A homozygous missense variant in the PLCB4 gene causes severe phenotype of auriculocondylar syndrome type 2.Semantic proximity Read ↗

Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review.Semantic proximity Read ↗

Auriculocondylar syndrome 2 results from the dominant-negative action of PLCB4 variants.Semantic proximity Read ↗

Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect.Semantic proximity Read ↗

Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.Semantic proximity Read ↗

Prenatal diagnosis of auriculocondylar syndrome with a novel missense variant of GNAI3: a case report.Semantic proximity Read ↗

Auriculocondylar syndrome: Pathogenesis, clinical manifestations and surgical therapies.Semantic proximity Read ↗

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