Head and neck manifestations of 22q11.2 deletion syndromes

Marom, Tal; Roth, Yehudah; Goldfarb, Alvin I.; Cinamon, Udi

doi:10.1007/s00405-011-1745-1

Cited by 27 publications

(16 citation statements)

References 44 publications

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“…While there is evidence in the medical literature of morphologic thyroid anomalies in the 22q11.2 DS population [Fagman et al, 2007;Stagi et al, 2010;Marom et al, 2012], there were insufficient data about thyroid morphology in our subjects, as routine thyroid imaging is not standard of care. While there is evidence in the medical literature of morphologic thyroid anomalies in the 22q11.2 DS population [Fagman et al, 2007;Stagi et al, 2010;Marom et al, 2012], there were insufficient data about thyroid morphology in our subjects, as routine thyroid imaging is not standard of care.…”

Section: Discussionmentioning

confidence: 92%

“…It is the most common microdeletion syndrome, with a minimum estimated prevalence of 1/4,000 individuals [ Oskarsd ottir et al, 2004]. The clinical phenotype comprises a subtle yet distinct facial appearance, cardiac, velopharyngeal, renal, immune, and endocrine anomalies as well as developmental and cognitive delays and an increased risk for psychiatric illness [de Almeida et al, 2009;Stagi et al, 2010;Bassett et al, 2011;Marom et al, 2012]. The clinical phenotype comprises a subtle yet distinct facial appearance, cardiac, velopharyngeal, renal, immune, and endocrine anomalies as well as developmental and cognitive delays and an increased risk for psychiatric illness [de Almeida et al, 2009;Stagi et al, 2010;Bassett et al, 2011;Marom et al, 2012].…”

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confidence: 99%

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An increased prevalence of thyroid disease in children with 22q11.2 deletion syndrome

Shugar

Shapiro

Cytrynbaum

et al. 2015

American J of Med Genetics Pt A

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We reviewed the health records of pediatric patients with 22q11.2 deletion syndrome (22q11.2 DS) seen over a 5-year period in our 22q11.2 DS multidisciplinary clinic. We determined the prevalence of thyroid dysfunction in this population, in comparison to general population data. Statistical tests were applied to investigate trends in gender differences, thyroid disease subtype and co-morbid conditions in the patients identified with thyroid disease. Of 169 subjects (92 male, 77 female) 9.5% had overt thyroid disease; of these, 1.8% had hyperthyroidism and 7.7% had hypothyroidism; 42% of patients with subclinical or prodromal thyroid disease progressed to overt disease. Our data indicate that thyroid disease prevalence in the 22q11DS pediatric population is significantly higher than that in the general pediatric population Furthermore, over 1/3 of patients in our study population who presented with subclinical thyroid disease progressed to overt disease, requiring medical therapy. Thyroid disease screening should be incorporated into routine medical management of children with 22q11.2 DS. Guidelines for screening individuals with 22q11.2 DS are presented.

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Section: Discussionmentioning

confidence: 92%

mentioning

confidence: 99%

An increased prevalence of thyroid disease in children with 22q11.2 deletion syndrome

Shugar

Shapiro

Cytrynbaum

et al. 2015

American J of Med Genetics Pt A

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“…Some difficulties might reflect cardiovascular or immunological anomalies (Jawad et al, 2001); however, nasopharyngeal and airway dysmorphology (Huang and Shapiro, 2000; Marom et al, 2012) as well as altered oro-facial sensory and/or motor control (Zori et al, 1998) probably initiates or exacerbates aspiration or reflux that leads to discomfort and infection (Lundy et al, 1999; Rommel et al, 2008; Lima et al, 2010; Trinick et al, 2012). The pathogenesis of these complications remains unknown, presumably because developmental causes cannot be easily studied in 22q11DS patients.…”

Section: Introductionmentioning

confidence: 99%

Dysphagia and disrupted cranial nerve development in a mouse model of DiGeorge/22q11 Deletion Syndrome

Karpinski

Maynard

Fralish

et al. 2013

Disease Models &Amp; Mechanisms

114

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We assessed feeding-related developmental anomalies in the LgDel mouse model of chromosome 22q11 deletion syndrome (22q11DS), a common developmental disorder that frequently includes perinatal dysphagia – debilitating feeding, swallowing and nutrition difficulties from birth onward – within its phenotypic spectrum. LgDel pups gain significantly less weight during the first postnatal weeks, and have several signs of respiratory infections due to food aspiration. Most 22q11 genes are expressed in anlagen of craniofacial and brainstem regions critical for feeding and swallowing, and diminished expression in LgDel embryos apparently compromises development of these regions. Palate and jaw anomalies indicate divergent oro-facial morphogenesis. Altered expression and patterning of hindbrain transcriptional regulators, especially those related to retinoic acid (RA) signaling, prefigures these disruptions. Subsequently, gene expression, axon growth and sensory ganglion formation in the trigeminal (V), glossopharyngeal (IX) or vagus (X) cranial nerves (CNs) that innervate targets essential for feeding, swallowing and digestion are disrupted. Posterior CN IX and X ganglia anomalies primarily reflect diminished dosage of the 22q11DS candidate gene Tbx1. Genetic modification of RA signaling in LgDel embryos rescues the anterior CN V phenotype and returns expression levels or pattern of RA-sensitive genes to those in wild-type embryos. Thus, diminished 22q11 gene dosage, including but not limited to Tbx1, disrupts oro-facial and CN development by modifying RA-modulated anterior-posterior hindbrain differentiation. These disruptions likely contribute to dysphagia in infants and young children with 22q11DS.

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“…Craniofacial malformations occur in more than half of 22q11DS patients, and various degrees of cleft palate (complete, submucosal, and soft) are among the most frequent features [61]. In mice, Tbx1 is expressed in the developing facial regions during late embryogenesis specifically within the epithelial regions of the tooth germs, palatal shelves, facial processes, and hair follicles.…”

Section: Tbx1 In Palatogenesismentioning

confidence: 99%

Understanding the Role of Tbx1 as a Candidate Gene for 22q11.2 Deletion Syndrome

Gao

Amendt

2013

Curr Allergy Asthma Rep

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22q11.2 deletion syndrome (22q11.2DS) is caused by a commonly occurring microdeletion on chromosome 22. Clinical findings include cardiac malformations, thymic and parathyroid hypoplasia, craniofacial dysmorphisms, and dental defects. These phenotypes are due mainly to abnormal development of the pharyngeal apparatus. Targeted deletion studies in mice and analysis of naturally occurring mutations in humans have implicated Tbx1 as a candidate gene for 22q11.2DS. Tbx1 belongs to an evolutionarily conserved T-box family of transcription factors, whose expression is precisely regulated during embryogenesis, and it appears to regulate the proliferation and differentiation of various progenitor cells during organogenesis. In this review, we discuss the mechanisms of Tbx1 during development of the heart, thymus and parathyroid glands, as well as during formation of the palate, teeth, and other craniofacial features.

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Head and neck manifestations of 22q11.2 deletion syndromes

Cited by 27 publications

References 44 publications

An increased prevalence of thyroid disease in children with 22q11.2 deletion syndrome

An increased prevalence of thyroid disease in children with 22q11.2 deletion syndrome

Dysphagia and disrupted cranial nerve development in a mouse model of DiGeorge/22q11 Deletion Syndrome

Understanding the Role of Tbx1 as a Candidate Gene for 22q11.2 Deletion Syndrome

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