X‐linked dysmorphic syndrome with mental retardation

Prieto, Félix; Badía, L; Mulas, Fernando; Monfort, Anne; Mora, F.

doi:10.1111/j.1399-0004.1987.tb03297.x

Cited by 22 publications

(2 citation statements)

References 7 publications

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“…WNK3 encodes a cell volume-sensitive kinase that is highly expressed during early brain development [ 71 ]. Previously, multiple hemizygous, LoF, and pathogenic missense variants were identified in WNK3 in male individuals with sporadic and familial forms of ID [ 72 ]. Re-examination of comorbidities in the two probands in our cohorts reveals that neither had ID, and only one had ADHD, potentially representing an expansion of the WNK3- related phenotype.…”

Section: Discussionmentioning

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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Section: Discussionmentioning

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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“…Eleven studies found a possible association with eleven more syndromes, but there was only one study per syndrome [3, 9, 18, 32, 43, 46, 50, 53, 57, 66, 70] (Table 1 and Appendix 3).…”

Section: Methodsmentioning

confidence: 99%

Familial association and epidemilogical factors as risk factors for developing first time and recurrent patella dislocation: a systematic review and best knowledge synthesis of present literature

Danielsen

Poulsen

Eysturoy

et al. 2023

Knee Surg Sports Traumatol Arthrosc

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Purpose The aim of our study was to perform a systematic review and best knowledge synthesis of the present literature concerning the familial association and epidemiological factors as risk factors for developing irst-time and recurrent patella dislocation. MethodsThe study was conducted according to the PRISMA guidelines and registered in PROSPERO. EMBASE and PubMed were systematically searched on the 5th of May 2022. Studies investigating participants with genetic and epidemiological risk factors for the irst time as well as recurrent patella dislocation were included. The records were screened, and data were extracted independently by two researchers supervised by a third independent assessor. Results A total of 6,649 records were screened, and 67 studies were included. Familial association was described as a risk factor for patella dislocation in 17 studies. One study found that participants with a family history of patella dislocation had a 3.7 higher risk for patella dislocation in the contralateral asymptomatic knee, and another study found a family history of PD in 9% of 74 participants. Eleven studies found an accumulation of patella dislocation across generations in speciic families. Additionally, a range of genetic syndromes was associated with patella dislocation. Young age is a well-investigated risk factor for patella dislocation, but the results are inconsistent. Only ive and eight studies investigated skeletal immaturity and gender as risk factors for patella dislocation, respectively. Conclusion There may be a familial association with patella dislocation, but further investigation is necessary to determine the strength and etiology of the association. There is weak evidence that epidemiological risk factors, such as age, skeletal immaturity, gender, and BMI are risk factors for patella dislocation. Level of evidence IV.

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X-linked mental retardation syndrome: Three brothers with the Brooks-Wisniewski-Brown syndrome

1996

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We report on 3 brothers with growth and mental retardation, bifrontal narrowness, short palpebral fissures, deeply set eyes with entropion, wide bulbous nose, small mouth, myopia, and spastic diplegia. The patients were born to normal and non‐consanguineous parents. The similarity of our cases with those recently reported by Brooks et al. [Am J Med Genet 51:586–590, 1994] supports their suggestion that these patients are representative of a distinct entity. © 1996 Wiley‐Liss, Inc.

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X‐linked dysmorphic syndrome with mental retardation

Cited by 22 publications

References 7 publications

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

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

Familial association and epidemilogical factors as risk factors for developing first time and recurrent patella dislocation: a systematic review and best knowledge synthesis of present literature

X-linked mental retardation syndrome: Three brothers with the Brooks-Wisniewski-Brown syndrome

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