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Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update [PDF]

Human Mutation, 2016
Mandibulofacial dysostosis with microcephaly (MFDM) is a multiple malformation syndrome comprising microcephaly, craniofacial anomalies, hearing loss, dysmorphic features, and, in some cases, esophageal atresia. Haploinsufficiency of a spliceosomal GTPase, U5-116 kDa/EFTUD2, is responsible.
Karen Gripp, Chantal Morel, Taila Hartley   +2 more
exaly   +3 more sources

AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes. [PDF]

Front Pediatr, 2023
IntroductionMandibulo-Facial Dysostosis with Microcephaly (MFDM) is a rare disease with a broad spectrum of symptoms, characterized by zygomatic and mandibular hypoplasia, microcephaly, and ear abnormalities. Here, we aimed at describing the external ear
Hennocq Q, Bongibault T, Marlin S, Amiel J, Attie-Bitach T, Baujat G, Boutaud L, Carpentier G, Corre P, Denoyelle F, Djate Delbrah F, Douillet M, Galliani E, Kamolvisit W, Lyonnet S, Milea D, Pingault V, Porntaveetus T, Touzet-Roumazeille S, Willems M, Picard A, Rio M, Garcelon N, Khonsari RH.   +23 more
europepmc   +2 more sources

Mandibulofacial dysostosis

South African Journal of Radiology, 2012
Two cases of mandibulofacial dystostosis are presented in order to describe the features associated with the condition. Computed tomography (CT) is frequently performed on these patients to aid in surgical planning.
Hein Els, Shaun Scheepers
doaj   +6 more sources

A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report. [PDF]

BMC Med Genet, 2020
Background Mandibulofacial dysostosis with microcephaly (MFDM) is a rare autosomal dominant genetic disease characterized by intellectual and growth retardations, as well as major microcephaly, induced by missense and splice site variants or ...
Jacob A, Pasquier J, Carapito R, Auradé F, Molitor A, Froguel P, Fakhro K, Halabi N, Viot G, Bahram S, Rafii A.   +10 more
europepmc   +2 more sources

Recurrent mandibulofacial dysostosis, Guion-Almeida type in consecutive pregnancies due to maternal mosaicism of a novel EFTUD2 variant: a case report and review of the literature. [PDF]

J Med Case Rep
Background Mandibulofacial dysostosis, Guion-Almeida type is an autosomal dominant disorder characterized by craniofacial malformations and intellectual disability.
Wang B, Hua C, Liu Q, Cai D.
europepmc   +2 more sources

Novel Splice Site Pathogenic Variant of EFTUD2 Is Associated with Mandibulofacial Dysostosis with Microcephaly and Extracranial Symptoms in Korea. [PDF]

Diagnostics (Basel), 2020
Elongation factor Tu guanosine-5’-triphosphate (GTP) binding domain containing 2 (EFTUD2) encodes a major component of the spliceosomal GTPase and, if mutated, causes mandibulofacial dysostosis with microcephaly (MFDM; MIM#610536). Despite the increasing
Kim SY, Lee DH, Han JH, Choi BY.
europepmc   +2 more sources

Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly. [PDF]

BMC Med Genomics
Background Achondroplasia and mandibulofacial dysostosis with microcephaly (MFDM) are rare monogenic, dominant disorders, caused by gain-of-function fibroblast growth factor receptor 3 (FGFR3) gene variants and loss-of-function elongation factor Tu GTP ...
Lyulcheva-Bennett E, Kershaw C, Baker E, Gillies S, McCarthy E, Higgs J, Canham N, Hennigan D, Parks C, Bennett D.   +9 more
europepmc   +2 more sources

Atypical mandibulofacial dysostosis with microcephaly diagnosed through the identification of a novel pathogenic mutation in EFTUD2. [PDF]

Mol Genet Genomic Med
Background Mandibulofacial dysostosis with microcephaly (MFDM, OMIM# 610536) is a rare monogenic disease that is caused by a mutation in the elongation factor Tu GTP binding domain containing 2 gene (EFTUD2, OMIM* 603892).
Chen Y, Yang R, Chen X, Lin N, Li C, Fu Y, He A, Wang Y, Zhang T, Ma J.   +9 more
europepmc   +2 more sources

Mandibulofacial dysostosis (Treacher Collins syndrome): A case report and review of literature. [PDF]

Contemp Clin Dent, 2014
Treacher Collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable phenotypic expression. It presents with characteristic facial appearance enabling it to be easily recognizable.
Renju R, Varma BR, Kumar SJ, Kumaran P.
europepmc   +2 more sources

Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding. [PDF]

J Clin Invest, 2023
Mutations of G protein–coupled receptors (GPCRs) cause various human diseases, but the mechanistic details are limited. Here, we establish p.E303K in the gene encoding the endothelin receptor type A (ETAR/EDNRA) as a recurrent mutation causing ...
Kurihara Y, Ekimoto T, Gordon CT, Uchijima Y, Sugiyama R, Kitazawa T, Iwase A, Kotani R, Asai R, Pingault V, Ikeguchi M, Amiel J, Kurihara H.   +12 more
europepmc   +2 more sources