Citation
Lehalle, Daphné, et al. "Delineation of EFTUD2 Haploinsufficiency-related Phenotypes Through a Series of 36 Patients." Human Mutation, vol. 35, no. 4, 2014, pp. 478-85.
Lehalle D, Gordon CT, Oufadem M, et al. Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients. Hum Mutat. 2014;35(4):478-85.
Lehalle, D., Gordon, C. T., Oufadem, M., Goudefroye, G., Boutaud, L., Alessandri, J. L., Baena, N., Baujat, G., Baumann, C., Boute-Benejean, O., Caumes, R., Decaestecker, C., Gaillard, D., Goldenberg, A., Gonzales, M., Holder-Espinasse, M., Jacquemont, M. L., Lacombe, D., Manouvrier-Hanu, S., ... Amiel, J. (2014). Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients. Human Mutation, 35(4), 478-85. https://doi.org/10.1002/humu.22517
Lehalle D, et al. Delineation of EFTUD2 Haploinsufficiency-related Phenotypes Through a Series of 36 Patients. Hum Mutat. 2014;35(4):478-85. PubMed PMID: 24470203.
TY - JOUR
T1 - Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.
AU - Lehalle,Daphné,
AU - Gordon,Christopher T,
AU - Oufadem,Myriam,
AU - Goudefroye,Géraldine,
AU - Boutaud,Lucile,
AU - Alessandri,Jean-Luc,
AU - Baena,Neus,
AU - Baujat,Geneviève,
AU - Baumann,Clarisse,
AU - Boute-Benejean,Odile,
AU - Caumes,Roseline,
AU - Decaestecker,Charles,
AU - Gaillard,Dominique,
AU - Goldenberg,Alice,
AU - Gonzales,Marie,
AU - Holder-Espinasse,Muriel,
AU - Jacquemont,Marie-Line,
AU - Lacombe,Didier,
AU - Manouvrier-Hanu,Sylvie,
AU - Marlin,Sandrine,
AU - Mathieu-Dramard,Michèle,
AU - Morin,Gilles,
AU - Pasquier,Laurent,
AU - Petit,Florence,
AU - Rio,Marlène,
AU - Smigiel,Robert,
AU - Thauvin-Robinet,Christel,
AU - Vasiljevic,Alexandre,
AU - Verloes,Alain,
AU - Malan,Valérie,
AU - Munnich,Arnold,
AU - de Pontual,Loïc,
AU - Vekemans,Michel,
AU - Lyonnet,Stanislas,
AU - Attié-Bitach,Tania,
AU - Amiel,Jeanne,
Y1 - 2014/03/05/
PY - 2013/11/06/received
PY - 2014/01/10/accepted
PY - 2014/1/29/entrez
PY - 2014/1/29/pubmed
PY - 2015/1/30/medline
KW - EFTUD2
KW - mandibulofacial dysostosis
KW - microcephaly
KW - spliceosome
SP - 478
EP - 85
JF - Human mutation
JO - Hum Mutat
VL - 35
IS - 4
N2 - Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing loss, cleft palate, choanal atresia, microcephaly, intellectual disability, oesophageal atresia (OA), congenital heart defects (CHDs), and radial ray defects. MFDGA emerges as a clinically recognizable entity, long underdiagnosed due to highly variable presentations. The main differential diagnoses are CHARGE and Feingold syndromes, oculoauriculovertebral spectrum, and other MFDs. EFTUD2, located on 17q21.31, encodes a component of the major spliceosome and is disease causing in MFDGA, due to heterozygous loss-of-function (LoF) mutations. Here, we describe a series of 36 cases of MFDGA, including 24 previously unreported cases, and we review the literature in order to delineate the clinical spectrum ascribed to EFTUD2 LoF. MFD, external ear anomalies, and intellectual deficiency occur at a higher frequency than microcephaly. We characterize the evolution of the facial gestalt at different ages and describe novel renal and cerebral malformations. The most frequent extracranial malformation in this series is OA, followed by CHDs and skeletal abnormalities. MFDGA is probably more frequent than other syndromic MFDs such as Nager or Miller syndromes. Although the wide spectrum of malformations complicates diagnosis, characteristic facial features provide a useful handle.
SN - 1098-1004
UR - https://www.unboundmedicine.com/medline/citation/24470203/Delineation_of_EFTUD2_haploinsufficiency_related_phenotypes_through_a_series_of_36_patients_
DB - PRIME
DP - Unbound Medicine
ER -
