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Head and Neck Muscles
Published in Eve K. Boyle, Vondel S. E. Mahon, Rui Diogo, Handbook of Muscle Variations and Anomalies in Humans, 2022
Eve K. Boyle, Vondel S. E. Mahon, Rui Diogo, Warrenkevin Henderson, Hannah Jacobson, Noelle Purcell, Kylar Wiltz
Congenital hypoplasia or agenesis of depressor anguli oris is a primary cause of asymmetric crying facies (ACF) (Pasick et al. 2013; Akcan et al. 2016; Watanabe 2016). This anomaly is often associated with other congenital anomalies throughout the body and has been observed in individuals with 22q11.2 deletion syndrome and infants born after in vitro fertilization (Alexiou et al. 1976; Pasick et al. 2013; Akcan et al. 2016; Watanabe 2016).
Genetics
Published in Cathy Laver-Bradbury, Margaret J.J. Thompson, Christopher Gale, Christine M. Hooper, Child and Adolescent Mental Health, 2021
ADHD is more common in copy number variant syndromes such as 22q11.2 deletion syndrome (Niarchou et al., 2015). Children with ADHD appear to have an excess burden of copy number variants compared to children without ADHD (Elia et al., 2012; Williams et al., 2010). The identified CNVs overlap with those associated with ASD and schizophrenia. A recent whole-exome sequencing study observed that rare mutations in ADHD strongly overlapped with those found in autism (Satterstrom et al., 2018).
What Genetic Screening Is Appropriate in Recurrent Pregnancy Loss?
Published in Howard J.A. Carp, Recurrent Pregnancy Loss, 2020
The main commercial providers have extended cfDNA screening to include some CNVs. All of them now include 22q11.2 deletion syndrome. Many also include some less common but severe syndromes: for example, Williams-Beuren (7q11), Prader-Willi and Angelman (15q11-12), Miller-Dieker (17p13), Smith-Magenis (17p11), Wolf-Hirschhorn (4p16), cri-du-chat (5p15), Langer-Giedon (8q23-24), 1p36, and Jacobsen (11q24.1). The ability to detect microdeletions is limited by the minimum size of the identifiable deletion and the depth of sequencing [36] or for one method the number of informative SNPs.
Prevalence and incidence of psychotic disorders in 22q11.2 deletion syndrome: a meta-analysis
Published in International Review of Psychiatry, 2022
Umberto Provenzani, Stefano Damiani, Ilaria Bersano, Simran Singh, Antonella Moschillo, Tommaso Accinni, Natascia Brondino, Dominic Oliver, Paolo Fusar-Poli
The 22q11.2 deletion syndrome (22q11.2DS) is one of the most common syndromes caused by a rare Copy Number Variation, with a prevalence estimated at around 1/3000 to 1/6000 live births (McDonald-McGinn et al., 2015). In the majority of cases, it is caused by a 3 Mb hemizygous deletion in chromosomal region 22q11.2, de novo in 85–90% of cases (Delio et al., 2013; Swillen et al., 2000). The term is used to refer to a heterogeneous group of disorders that share the same genetic alteration: DiGeorge syndrome or velo-cardio-facial syndrome, Cono-Truncal Anomaly Face Syndrome, Opitz syndrome and CHARGE syndrome (coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear abnormalities) (McLean-Tooke et al., 2007). It can affect both sexes, and it is present in different ethnic groups thus not being characteristic of Caucasians (McDonald-McGinn et al., 1999), but it has a higher prevalence in western countries (Park et al., 2007). The gold-standard diagnostic test is fluorescence in situ hybridisation (Bretelle et al., 2010), while other recent techniques include multiplex ligation-dependent probe amplification (which uses probes directed towards the entire 22q11 region) and microarray comparative genome hybridisation (Morrow et al., 2018).
Genetic Testing Is Messier in Practice than in Theory: Lessons from Neonatology
Published in The American Journal of Bioethics, 2022
Katharine Press Callahan, Chris Feudtner
Again, let’s illustrate with another hypothetical case. Consider a fetal patient with renal anomalies. Whole exome sequencing is sent. The patient is diagnosed with a variant of 22q11.2 deletion syndrome. While other specific deletions causing this syndrome are associated with renal anomalies (Lopez-Rivera et al. 2017), this particular deletion has not been previously associated. Her genetic diagnosis is more certainly associated with an increased risk of developing psychiatric disease in adulthood. Where on the framework would this genetic information fall and who would be responsible to decide? Does this diagnosis meet the proposed threshold for which 70% of women would consider termination? If a woman did opt for termination, would this decision have been based on the renal anomaly or the risk of psychiatric disease?
Serum zonulin and claudin-5 levels in children with obsessive–compulsive disorder
Published in Nordic Journal of Psychiatry, 2020
Ümit Işık, Pınar Aydoğan Avşar, Evrim Aktepe, Duygu Kumbul Doğuç, Faruk Kılıç, Halil İbrahim Büyükbayram
Claudins are a multigene family of 20–24 kDa integral membrane proteins and 24 claudin proteins; these have been identified in humans [24,25]. The claudins are expressed in numerous tissues with claudins-3, -5, and -12 being expressed by brain endothelial cells with claudin-5 being the most enriched [26]. Claudin-5 is a transmembrane tight–junction protein that is strongly expressed in the BBB site and endothelial cells of the brain. The characteristics of the brain endothelial tight–junction complex are regarded to be dependent on claudin-5 cell–cell interaction, thus enabling this protein to play an important part in maintaining the integrity of the brain endothelial barrier. Hence, changes in the claudin-5 function can contribute to the paracellular route “opening” and enhanced permeability of the brain’s endothelial barrier [24]. The claudin-5 gene is located within 22q11.21 chromosome [9,24]. Individuals with the 22q11 deletion syndrome (22q11DS) have a 30-fold enhanced lifetime risk of developing schizophrenia and other neuropsychiatric conditions [27]. Claudin-5 expression has been studied in schizophrenia, and the authors suggested that the disruption of BBB may be a modifying factor in schizophrenia development [9,11]. Although OCD is common in 22q11DS [28], there is no study that has examined the relationship between OCD and claudin-5.