Results 1 to 10 of about 2,017 (144)

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

BMC Medical 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 ...
Ekaterina Lyulcheva-Bennett, Christopher Kershaw, Eleanor Baker, Stuart Gillies, Emma McCarthy, Jenny Higgs, Natalie Canham, Dawn Hennigan, Chris Parks, Daimark Bennett   +9 more
doaj   +3 more sources

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

Molecular Genetics & Genomic Medicine
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).
Ying Chen, Run Yang, Xin Chen, Naier Lin, Chenlong Li, Yaoyao Fu, Aijuan He, Yimin Wang, Tianyu Zhang, Jing Ma   +9 more
doaj   +3 more sources

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

BMC Medical Genetics, 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 ...
Arthur Jacob, Jennifer Pasquier, Raphael Carapito, Frédéric Auradé, Anne Molitor, Philippe Froguel, Khalid Fakhro, Najeeb Halabi, Géraldine Viot, Seiamak Bahram, Arash Rafii   +10 more
doaj   +3 more sources

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

Diagnostics, 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
So Young Kim, Da-hye Lee, Jin Hee Han, Byung Yoon Choi   +3 more
doaj   +3 more sources

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

The Journal of Clinical Investigation, 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 ...
Yukiko Kurihara, Toru Ekimoto, Christopher T. Gordon, Yasunobu Uchijima, Ryo Sugiyama, Taro Kitazawa, Akiyasu Iwase, Risa Kotani, Rieko Asai, Véronique Pingault, Mitsunori Ikeguchi, Jeanne Amiel, Hiroki Kurihara   +12 more
doaj   +3 more sources

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

Frontiers in Pediatrics, 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
Quentin Hennocq, Quentin Hennocq, Quentin Hennocq, Thomas Bongibault, Thomas Bongibault, Sandrine Marlin, Sandrine Marlin, Jeanne Amiel, Jeanne Amiel, Tania Attie-Bitach, Tania Attie-Bitach, Geneviève Baujat, Geneviève Baujat, Lucile Boutaud, Georges Carpentier, Pierre Corre, Pierre Corre, Françoise Denoyelle, François Djate Delbrah, Maxime Douillet, Eva Galliani, Wuttichart Kamolvisit, Wuttichart Kamolvisit, Stanislas Lyonnet, Stanislas Lyonnet, Dan Milea, Véronique Pingault, Véronique Pingault, Thantrira Porntaveetus, Thantrira Porntaveetus, Sandrine Touzet-Roumazeille, Marjolaine Willems, Arnaud Picard, Marlène Rio, Marlène Rio, Nicolas Garcelon, Roman H. Khonsari, Roman H. Khonsari, Roman H. Khonsari   +38 more
doaj   +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]

Journal of Medical Case Reports
Background Mandibulofacial dysostosis, Guion-Almeida type is an autosomal dominant disorder characterized by craniofacial malformations and intellectual disability.
Bing Wang, Chunxiao Hua, Qimeng Liu, Dajun Cai   +3 more
doaj   +2 more sources

Molecular Characterisation of Treacher Collins Syndrome in a South African Cohort: Novel Disease-Causing Variants in TCOF1 and POLR1D. [PDF]

Mol Genet Genomic Med
Targeted next‐generation sequencing of South African patients with suspected Treacher Collins syndrome identified pathogenic variants in six cases, including multiple novel TCOF1 and POLR1D variants. These findings expand the African mutational spectrum and support panel‐based testing to improve diagnosis and genetic counselling in resource‐limited ...
Nevondwe P, Mudau M, Seymour H, Kerr R, Lombard Z, Krause A, Carstens N.   +6 more
europepmc   +2 more sources

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

Contemporary Clinical Dentistry, 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.
Raj Renju, Balagopal R Varma, Suresh J Kumar, Parvathy Kumaran   +3 more
doaj   +2 more sources

Evaluation of a Facial Dysmorphology Analysis Algorithm (Face2Gene) in Identifying Treacher Collins Syndrome Amongst Diverse Population. [PDF]

Orthod Craniofac Res
ABSTRACT Background Treacher Collins Syndrome (TCS) is an uncommon congenital disease of the craniofacial complex. While there are ‘classic’ facial manifestations of TCS, they present with a wide range of variability. Face2Gene (F2G) is a deep‐learning algorithm that can provide differential diagnoses of syndromes via analysis of 2‐dimensional facial ...
Sng JHT, Hue JJJ, Rubio-Palau J.
europepmc   +2 more sources