Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association

Pagon, Roberta A; Graham, John M.; Zonana, Jonathan; Yong, Siu Li

doi:10.1016/s0022-3476(81)80454-4

Cited by 788 publications

(512 citation statements)

References 19 publications

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“…CHARGE syndrome is characterized by a non‐random clustering of a complex array of congenital malformations (Jongmans et al, 2006; Lalani et al, 2006; Pagon, Zonana, & Yong, 1981). The discovery of loss‐of‐function mutations in the CHD7 gene in patients with CHARGE syndrome (Janssen et al, 2012; Vissers et al, 2004), has led to significant progress in elucidating the developmental and molecular genetic mechanisms underlying specific phenotypes associated with CHARGE syndrome (Layman, Hurd, & Martin, 2010).…”

Section: Introductionmentioning

confidence: 99%

Distinct cerebellar foliation anomalies in a CHD7 haploinsufficient mouse model of CHARGE syndrome

Whittaker

Kasah

Donovan

et al. 2017

American J of Med Genetics Pt C

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Mutations in the gene encoding the ATP dependent chromatin‐remodeling factor, CHD7 are the major cause of CHARGE (Coloboma, Heart defects, Atresia of the choanae, Retarded growth and development, Genital‐urinary anomalies, and Ear defects) syndrome. Neurodevelopmental defects and a range of neurological signs have been identified in individuals with CHARGE syndrome, including developmental delay, lack of coordination, intellectual disability, and autistic traits. We previously identified cerebellar vermis hypoplasia and abnormal cerebellar foliation in individuals with CHARGE syndrome. Here, we report mild cerebellar hypoplasia and distinct cerebellar foliation anomalies in a Chd7 haploinsufficient mouse model. We describe specific alterations in the precise spatio‐temporal sequence of fissure formation during perinatal cerebellar development responsible for these foliation anomalies. The altered cerebellar foliation pattern in Chd7 haploinsufficient mice show some similarities to those reported in mice with altered Engrailed, Fgf8 or Zic1 gene expression and we propose that mutations or polymorphisms in these genes may modify the cerebellar phenotype in CHARGE syndrome. Our findings in a mouse model of CHARGE syndrome indicate that a careful analysis of cerebellar foliation may be warranted in patients with CHARGE syndrome, particularly in patients with cerebellar hypoplasia and developmental delay.

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Section: Introductionmentioning

confidence: 99%

Distinct cerebellar foliation anomalies in a CHD7 haploinsufficient mouse model of CHARGE syndrome

Whittaker

Kasah

Donovan

et al. 2017

American J of Med Genetics Pt C

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“…Sixty percent of choanal artresia are associated with one or more supplementary cogenital anomalies [5]. Recent observation have associated choanal artresia with specific anomalies, the CHARGE association [2] consisting of : Colobomatous blindness,Heart disease, Artesia of choana, Retarded growth including CNS, Genital hypoplasia in males, Ear deformities including deafness. Our patient had four out of five components of the CHARGE association that can occur in females.…”

Section: Discussionmentioning

confidence: 99%

“…Bilateral artresias present with acute respiratory distress in the neonate whereas unilateral choanal atresias often remain undetected, as they do not present with life threatening symptoms. Both may be associated with other anomalies like cogenital heart disease, external ear malformation, colobomata of eyelid or iris, gonadal hypoplasia, mental retardation, and cleft palate [2]. One such case is reported because of its rarity.…”

Section: Introductionmentioning

confidence: 99%

Choanal Artresia

VIJAYANAND¹,

CHAUDHURY²,

KALRA³

et al. 2000

Medical Journal Armed Forces India

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“…L'arhinencéphalie, c'est-à-dire l'absence des bulbes olfactifs, qui est l'une des anomalies du syndrome de Kallmann, est également observée dans différentes maladies pléiotropes du développement, notamment dans le syndrome CHARGE (l'appellation « maladie CHARGE » serait d'ailleurs plus appropriée), dont l'incidence est estimée à 1 sur 8 500 à 12 500 naissances. L'acronyme anglais CHARGE désigne l'association atrésie des choanes, cardiopathie congéni-tale, retard de croissance, hypoplasie des organes génitaux et anomalies de l'oreille externe et interne [4]. Cependant, de nombreux individus atteints de cette maladie n'ont pas toutes les anomalies phénotypiques qui composent l'acronyme et en ont par ailleurs souvent d'autres [5].…”

Section: … Et Physiopathologiqueunclassified