A de novo start-loss in <i>EFTUD2</i> associated with mandibulofacial dysostosis with microcephaly: case report

Kohailan, Muhammad; Al-Saei, Omayma; Padmajeya, Sujitha Subash; Aamer, Waleed; Elbashir, Najwa; Akil, Ammira Al‐Shabeeb; Kamboh, Abdul-Rauf; Fakhro, Khalid

doi:10.1101/mcs.a006206

Cited by 2 publications

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“…2 Recently, Muhammad.k and Omayma. Al have identified a de novo start-codon loss (c.3G > T) in the EFTUD2 gene in a 4.5-year-old female patient with TCS symptoms 17 . Unfortunately, we encountered difficulties in the genetic study of our patient.…”

Section: Discussionmentioning

confidence: 99%

Treacher Collins syndrome: A case report and review of literature

Kolsi

Boudaya

Thabet

et al. 2022

Clinical Case Reports

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Treacher Collins syndrome (TCS) is one of the rare genetic syndromes which is specified by symmetrical craniofacial dysmorphism without growth abnormalities or neurological disorders. The inheritance is usually autosomal dominant but sometimes it is a sporadic mutation. Prenatal diagnosis could be realized by genetic testing of a chorionic villus sample or amniocentesis if one of the parents is affected. At birth, the most common features are downward-sloping palpebral clefts, small badly hemmed and folded ears, and mandibular hypoplasia which could lead to respiratory distress. All of these clinical features exist in our case.Goldenhar syndrome shares with TCS some facial features which are not symmetrical and it is also associated with vertebral abnormalities. Some patients with TCS are exposed to many complications and they require multi-disciplinary medical care. But all of them need psychiatric care to fight social rejection. The aim of our report is to describe the most common features of TCS and similar syndromes. Also, report the involved genetic mutations, some associated complications, and their management.

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Section: Discussionmentioning

confidence: 99%

Treacher Collins syndrome: A case report and review of literature

Kolsi

Boudaya

Thabet

et al. 2022

Clinical Case Reports

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“…We selected 12 de novo variants to confirm using Sanger sequencing as previously described [ 58 ]. As a further quality check, we used digital-droplet PCR (ddPCR) to validate a subset of CNVs, as described previously [ 59 ].…”

Section: Methodsmentioning

confidence: 99%

Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study

Abdi,

Aliyev,

Trost

et al. 2023

Genome Med

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Background Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by impaired social and communication skills, restricted interests, and repetitive behaviors. The prevalence of ASD among children in Qatar was recently estimated to be 1.1%, though the genetic architecture underlying ASD both in Qatar and the greater Middle East has been largely unexplored. Here, we describe the first genomic data release from the BARAKA-Qatar Study—a nationwide program building a broadly consented biorepository of individuals with ASD and their families available for sample and data sharing and multi-omics research. Methods In this first release, we present a comprehensive analysis of whole-genome sequencing (WGS) data of the first 100 families (372 individuals), investigating the genetic architecture, including single-nucleotide variants (SNVs), copy number variants (CNVs), tandem repeat expansions (TREs), as well as mitochondrial DNA variants (mtDNA) segregating with ASD in local families. Results Overall, we identify potentially pathogenic variants in known genes or regions in 27 out of 100 families (27%), of which 11 variants (40.7%) were classified as pathogenic or likely-pathogenic based on American College of Medical Genetics (ACMG) guidelines. Dominant variants, including de novo and inherited, contributed to 15 (55.6%) of these families, consisting of SNVs/indels (66.7%), CNVs (13.3%), TREs (13.3%), and mtDNA variants (6.7%). Moreover, homozygous variants were found in 7 families (25.9%), with a sixfold increase in homozygous burden in consanguineous versus non-consanguineous families (13.6% and 1.8%, respectively). Furthermore, 28 novel ASD candidate genes were identified in 20 families, 23 of which had recurrent hits in MSSNG and SSC cohorts. Conclusions This study illustrates the value of ASD studies in under-represented populations and the importance of WGS as a comprehensive tool for establishing a molecular diagnosis for families with ASD. Moreover, it uncovers a significant role for recessive variation in ASD architecture in consanguineous settings and provides a unique resource of Middle Eastern genomes for future research to the global ASD community.

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A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report

Cited by 2 publications

References 44 publications

Treacher Collins syndrome: A case report and review of literature

Treacher Collins syndrome: A case report and review of literature

Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study

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