Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

Nancy Vegas; Zeynep Demir; Christopher T. Gordon; Sylvain Breton; Vanessa L. Romanelli Tavares; Hugo Moisset; Roseli Zechi-Ceide; Nancy M. Kokitsu-Nakata; Yasuhiro Kido; Sandrine Marlin; Souad Gherbi Halem; Ilse Meerschaut; Bert Callewaert; Brian Chung; Nicole Revencu; Daphné Lehalle; Florence Petit; Evan J. Propst; Blake C. Papsin; John H. Phillips; Linda Jakobsen; Pauline Le Tanno; Julien Thévenon; Julie McGaughran; Erica H. Gerkes; Chiara Leoni; Peter Kroisel; Tiong Y. Tan; Alex Henderson; Paulien Terhal; Lina Basel-Salmon; Adila Alkindy; Susan M. White; Maria R. Passos-Bueno; Véronique Pingault; Loïc De Pontual; Jeanne Amiel

doi:10.1002/humu.24349

Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

Nancy Vegas, Zeynep Demir, Christopher T. Gordon^*, Sylvain Breton, Vanessa L. Romanelli Tavares, Hugo Moisset, Roseli Zechi-Ceide, Nancy M. Kokitsu-Nakata, Yasuhiro Kido, Sandrine Marlin, Souad Gherbi Halem, Ilse Meerschaut, Bert Callewaert, Brian Chung, Nicole Revencu, Daphné Lehalle, Florence Petit, Evan J. Propst, Blake C. Papsin, John H. PhillipsLinda Jakobsen, Pauline Le Tanno, Julien Thévenon, Julie McGaughran, Erica H. Gerkes, Chiara Leoni, Peter Kroisel, Tiong Y. Tan, Alex Henderson, Paulien Terhal, Lina Basel-Salmon, Adila Alkindy, Susan M. White, Maria R. Passos-Bueno, Véronique Pingault, Loïc De Pontual, Jeanne Amiel^*

^*Corresponding author for this work

Pediatrics

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

Abstract

Auriculocondylar syndrome (ACS) is a rare craniofacial disorder characterized by mandibular hypoplasia and an auricular defect at the junction between the lobe and helix, known as a “Question Mark Ear” (QME). Several additional features, originating from the first and second branchial arches and other tissues, have also been reported. ACS is genetically heterogeneous with autosomal dominant and recessive modes of inheritance. The mutations identified to date are presumed to dysregulate the endothelin 1 signaling pathway. Here we describe 14 novel cases and reassess 25 published cases of ACS through a questionnaire for systematic data collection. All patients harbor mutation(s) in PLCB4, GNAI3, or EDN1. This series of patients contributes to the characterization of additional features occasionally associated with ACS such as respiratory, costal, neurodevelopmental, and genital anomalies, and provides management and monitoring recommendations.

Original language	English
Pages (from-to)	582-594
Number of pages	13
Journal	Human Mutation
Volume	43
Issue number	5
DOIs	https://doi.org/10.1002/humu.24349
State	Published - May 2022

Keywords

EDN1
GNAI3
PLCB4
auriculocondylar syndrome
craniofacial anomalies
question mark ear

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10.1002/humu.24349

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Vegas, N., Demir, Z., Gordon, C. T., Breton, S., Romanelli Tavares, V. L., Moisset, H., Zechi-Ceide, R., Kokitsu-Nakata, N. M., Kido, Y., Marlin, S., Gherbi Halem, S., Meerschaut, I., Callewaert, B., Chung, B., Revencu, N., Lehalle, D., Petit, F., Propst, E. J., Papsin, B. C., ... Amiel, J. (2022). Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases. Human Mutation, 43(5), 582-594. https://doi.org/10.1002/humu.24349

@article{f7abc97b036f43879002ce89f3bba562,

title = "Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases",

abstract = "Auriculocondylar syndrome (ACS) is a rare craniofacial disorder characterized by mandibular hypoplasia and an auricular defect at the junction between the lobe and helix, known as a “Question Mark Ear” (QME). Several additional features, originating from the first and second branchial arches and other tissues, have also been reported. ACS is genetically heterogeneous with autosomal dominant and recessive modes of inheritance. The mutations identified to date are presumed to dysregulate the endothelin 1 signaling pathway. Here we describe 14 novel cases and reassess 25 published cases of ACS through a questionnaire for systematic data collection. All patients harbor mutation(s) in PLCB4, GNAI3, or EDN1. This series of patients contributes to the characterization of additional features occasionally associated with ACS such as respiratory, costal, neurodevelopmental, and genital anomalies, and provides management and monitoring recommendations.",

keywords = "EDN1, GNAI3, PLCB4, auriculocondylar syndrome, craniofacial anomalies, question mark ear",

author = "Nancy Vegas and Zeynep Demir and Gordon, {Christopher T.} and Sylvain Breton and {Romanelli Tavares}, {Vanessa L.} and Hugo Moisset and Roseli Zechi-Ceide and Kokitsu-Nakata, {Nancy M.} and Yasuhiro Kido and Sandrine Marlin and {Gherbi Halem}, Souad and Ilse Meerschaut and Bert Callewaert and Brian Chung and Nicole Revencu and Daphn{\'e} Lehalle and Florence Petit and Propst, {Evan J.} and Papsin, {Blake C.} and Phillips, {John H.} and Linda Jakobsen and {Le Tanno}, Pauline and Julien Th{\'e}venon and Julie McGaughran and Gerkes, {Erica H.} and Chiara Leoni and Peter Kroisel and Tan, {Tiong Y.} and Alex Henderson and Paulien Terhal and Lina Basel-Salmon and Adila Alkindy and White, {Susan M.} and Passos-Bueno, {Maria R.} and V{\'e}ronique Pingault and {De Pontual}, Lo{\"i}c and Jeanne Amiel",

note = "Publisher Copyright: {\textcopyright} 2022 Wiley Periodicals LLC.",

year = "2022",

month = may,

doi = "10.1002/humu.24349",

language = "אנגלית",

volume = "43",

pages = "582--594",

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Vegas, N, Demir, Z, Gordon, CT, Breton, S, Romanelli Tavares, VL, Moisset, H, Zechi-Ceide, R, Kokitsu-Nakata, NM, Kido, Y, Marlin, S, Gherbi Halem, S, Meerschaut, I, Callewaert, B, Chung, B, Revencu, N, Lehalle, D, Petit, F, Propst, EJ, Papsin, BC, Phillips, JH, Jakobsen, L, Le Tanno, P, Thévenon, J, McGaughran, J, Gerkes, EH, Leoni, C, Kroisel, P, Tan, TY, Henderson, A, Terhal, P, Basel-Salmon, L, Alkindy, A, White, SM, Passos-Bueno, MR, Pingault, V, De Pontual, L & Amiel, J 2022, 'Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases', Human Mutation, vol. 43, no. 5, pp. 582-594. https://doi.org/10.1002/humu.24349

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T1 - Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

AU - Vegas, Nancy

AU - Demir, Zeynep

AU - Gordon, Christopher T.

AU - Breton, Sylvain

AU - Romanelli Tavares, Vanessa L.

AU - Moisset, Hugo

AU - Zechi-Ceide, Roseli

AU - Kokitsu-Nakata, Nancy M.

AU - Kido, Yasuhiro

AU - Marlin, Sandrine

AU - Gherbi Halem, Souad

AU - Meerschaut, Ilse

AU - Callewaert, Bert

AU - Chung, Brian

AU - Revencu, Nicole

AU - Lehalle, Daphné

AU - Petit, Florence

AU - Propst, Evan J.

AU - Papsin, Blake C.

AU - Phillips, John H.

AU - Jakobsen, Linda

AU - Le Tanno, Pauline

AU - Thévenon, Julien

AU - McGaughran, Julie

AU - Gerkes, Erica H.

AU - Leoni, Chiara

AU - Kroisel, Peter

AU - Tan, Tiong Y.

AU - Henderson, Alex

AU - Terhal, Paulien

AU - Basel-Salmon, Lina

AU - Alkindy, Adila

AU - White, Susan M.

AU - Passos-Bueno, Maria R.

AU - Pingault, Véronique

AU - De Pontual, Loïc

AU - Amiel, Jeanne

PY - 2022/5

Y1 - 2022/5

N2 - Auriculocondylar syndrome (ACS) is a rare craniofacial disorder characterized by mandibular hypoplasia and an auricular defect at the junction between the lobe and helix, known as a “Question Mark Ear” (QME). Several additional features, originating from the first and second branchial arches and other tissues, have also been reported. ACS is genetically heterogeneous with autosomal dominant and recessive modes of inheritance. The mutations identified to date are presumed to dysregulate the endothelin 1 signaling pathway. Here we describe 14 novel cases and reassess 25 published cases of ACS through a questionnaire for systematic data collection. All patients harbor mutation(s) in PLCB4, GNAI3, or EDN1. This series of patients contributes to the characterization of additional features occasionally associated with ACS such as respiratory, costal, neurodevelopmental, and genital anomalies, and provides management and monitoring recommendations.

AB - Auriculocondylar syndrome (ACS) is a rare craniofacial disorder characterized by mandibular hypoplasia and an auricular defect at the junction between the lobe and helix, known as a “Question Mark Ear” (QME). Several additional features, originating from the first and second branchial arches and other tissues, have also been reported. ACS is genetically heterogeneous with autosomal dominant and recessive modes of inheritance. The mutations identified to date are presumed to dysregulate the endothelin 1 signaling pathway. Here we describe 14 novel cases and reassess 25 published cases of ACS through a questionnaire for systematic data collection. All patients harbor mutation(s) in PLCB4, GNAI3, or EDN1. This series of patients contributes to the characterization of additional features occasionally associated with ACS such as respiratory, costal, neurodevelopmental, and genital anomalies, and provides management and monitoring recommendations.

KW - EDN1

KW - GNAI3

KW - PLCB4

KW - auriculocondylar syndrome

KW - craniofacial anomalies

KW - question mark ear

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DO - 10.1002/humu.24349

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C2 - 35170830

AN - SCOPUS:85125626538

SN - 1059-7794

VL - 43

SP - 582

EP - 594

JO - Human Mutation

JF - Human Mutation

IS - 5

ER -

Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

Abstract

Keywords

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