Newly recognized syndrome of cerebral, ocular, dental, auricular, skeletal anomalies: CODAS syndrome—a case report

Shebib, Souheil; Reed, Martin H.; Shuckett, E. Paul; Cross, HM; Jj, Perry; Chudley, Albert E.

doi:10.1002/ajmg.1320400118

Cited by 30 publications

(35 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Nevertheless, this child is the second affected child of Mennonite ancestry living in the Canadian province of Manitoba. The ®rst child described has unfortunately been lost to follow-up [Shebib et al, 1991]. The Old Colony Mennonites have previously been recognized as`a genetic and religious isolate with a distinct pattern of inherited disease'' [Jaworski et al, 1989].…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Third case of cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome, further delineating a new malformation syndrome: First report of an affected male and review of literature

Innes¹,

Chudley²,

Reed³

et al. 2001

Am. J. Med. Genet.

Self Cite

View full text Add to dashboard Cite

CODAS syndrome (MIM# 600373) is a rare multiple congenital anomalies syndrome. The disorder is highly distinctive with characteristic features consisting of developmental delay, cataracts, unusual enamel projections, overfolded and crumpled ears, epiphyseal dysplasia, and dysmorphic features (grooved nose, ptosis). To date, there have been two affected female children reported. The first was a Canadian girl of Mennonite descent, reported by our group, and the second was a girl from Brazil. The etiology and pattern of inheritance of CODAS is unknown. Herein we report a third affected child, a Canadian male infant of Mennonite ancestry. The child, now two years old, exhibits ptosis, cataracts, overfolded ears, grooved nasal tip, dental projections, developmental delay, and characteristic skeletal anomalies. The findings are characteristic for CODAS syndrome. All investigations including karyotype, metabolic screening, peroxisomal studies, and studies of cholesterol biosynthesis were normal. The underlying defect responsible for CODAS syndrome remains unknown. Many of the features suggest a possible underlying collagen gene defect. The fact that this child is the second child from the Manitoba Mennonite community, a genetic isolate, suggests the possibility of autosomal recessive inheritance. To date, there has not been a familial recurrence.

show abstract

Section: Discussionmentioning

confidence: 99%

“…It would appear to be rare, as only two cases have been reported in the literature [Shebib et al, 1991;Cabral de Almeida et al, 1995]. The phenotype appears to be remarkably distinctive, with typical facial features, developmental delay, congenital cataracts, unusual dental ®ndings, and skeletal anomalies.…”

Section: Introductionmentioning

confidence: 96%

Third case of cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome, further delineating a new malformation syndrome: First report of an affected male and review of literature

Innes¹,

Chudley²,

Reed³

et al. 2001

Am. J. Med. Genet.

Self Cite

View full text Add to dashboard Cite

show abstract

“…Two unrelated Manitoba Mennonite children were described with multiple anomalies consisting of cerebral, ocular, dental, auricular, and skeletal abnormalities and designated by the acronym CODAS syndrome [Shebib et al, 1991;Innes et al, 2001]. The authors suggested the possibility of autosomal recessive inheritance in this disorder; however, there had not been a familial recurrence to the time of this study.…”

Section: Presumed Autosomal Recessivementioning

confidence: 92%

Unique disease heritage of the Dutch‐German Mennonite population

Orton

Innes

Chudley

et al. 2008

American J of Med Genetics Pt A

Self Cite

View full text Add to dashboard Cite

The Dutch-German Mennonites are a religious isolate with foundational roots in the 16th century. A tradition of endogamy, large families, detailed genealogical records, and a unique disease history all contribute to making this a valuable population for genetic studies. Such studies in the Dutch-German Mennonite population have already contributed to the identification of the causative genes in several conditions such as the incomplete form of X-linked congenital stationary night blindness (CSNB2; previously iCSNB) and hypophosphatasia (HOPS), as well as the discovery of founder mutations within established disease genes (MYBPC1, CYP17alpha). The Dutch-German Mennonite population provides a strong resource for gene discovery and could lead to the identification of additional disease genes with relevance to the general population. In addition, further research developments should enhance delivery of clinical genetic services to this unique community. In the current review we discuss 31 genetic conditions, including 17 with identified gene mutations, within the Dutch-German Mennonite population.

show abstract

“…Cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome is a rare, multi-system developmental disorder originally described in 1991 [65]. Less than 20 cases have been reported to this day [65–67].…”

Section: Lon Involvement In Human Diseasesmentioning

confidence: 99%

“…Less than 20 cases have been reported to this day [65–67]. Two different groups reported in 2015 that the genetic abnormalities causing the CODAS Syndrome are compound heterozygous or homozygous mutations in LONP1 (either missense or nonsense point mutations or small in-frame deletions) [66,67].…”

Section: Lon Involvement In Human Diseasesmentioning

confidence: 99%

Mitochondrial Lon protease in human disease and aging: Including an etiologic classification of Lon-related diseases and disorders

Bota

Davies

2016

Free Radical Biology and Medicine

134

View full text Add to dashboard Cite

The Mitochondrial Lon protease, also called LonP1 is a product of the nuclear gene LONP1. Lon is a major regulator of mitochondrial metabolism and response to free radical damage, as well as an essential factor for the maintenance and repair of mitochondrial DNA. Lon is an ATP-stimulated protease that cycles between being bound (at the inner surface of the inner mitochondrial membrane) to the mitochondrial genome, and being released into the mitochondrial matrix where it can degrade matrix proteins. At least three different roles or functions have been ascribed to Lon: 1) Proteolytic digestion of oxidized proteins and the turnover of specific essential mitochondrial enzymes such as aconitase, TFAM, and StAR; 2) Mitochondrial (mt)DNA-binding protein, involved in mtDNA replication and mitogenesis; and 3) Protein chaperone, interacting with the Hsp60–mtHsp70 complex. LONP1 orthologs have been studied in bacteria, yeast, flies, worms, and mammals, evincing the widespread importance of the gene, as well as its remarkable evolutionary conservation. In recent years, we have witnessed a significant increase in knowledge regarding Lon's involvement in physiological functions, as well as in an expanding array of human disorders, including cancer, neurodegeneration, heart disease, and stroke. In addition, Lon appears to have a significant role in the aging process. A number of mitochondrial diseases have now been identified whose mechanisms involve various degrees of Lon dysfunction. In this paper we review current knowledge of Lon's function, under normal conditions, and we propose a new classification of human diseases characterized by a either over-expression or decline or loss of function of Lon. Lon has also been implicated in human aging, and we review the data currently available as well as speculating about possible interactions of aging and disease. Finally, we also discuss Lon as potential therapeutic target in human disease.

show abstract

Newly recognized syndrome of cerebral, ocular, dental, auricular, skeletal anomalies: CODAS syndrome—a case report

Cited by 30 publications

References 10 publications

Third case of cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome, further delineating a new malformation syndrome: First report of an affected male and review of literature

Third case of cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome, further delineating a new malformation syndrome: First report of an affected male and review of literature

Unique disease heritage of the Dutch‐German Mennonite population

Mitochondrial Lon protease in human disease and aging: Including an etiologic classification of Lon-related diseases and disorders

Contact Info

Product

Resources

About