Amelogenesis imperfecta among Israeli Jews and the description of a new type of local hypoplastic autosomal recessive amelogenesis imperfecta

Chosack, Aubrey; Eidelman, E; Wisotski, Ilana; Cohen, Tirza

doi:10.1016/0030-4220(79)90170-1

Cited by 85 publications

(59 citation statements)

References 2 publications

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“…Schulze [1956] reports the hypoplastic form to be related to XD inheritance in 9 large families living in the northern part of Germany, and Sundell and Valentin [1986] state that this inheri tance pattern could not be excluded in some of their families in the western part of Sweden associated with either the hypo plastic or the hypomineralization form. In the studies by Witkop [1957] from USA and Chosack et al [1979] from Israel, no families with an XD inheritance pattern are reported, and in the present study this inheritance pattern was a possible alterna tive in only I family.…”

Section: Discussionmentioning

confidence: 63%

“…Direct comparisons between the results of this and other genetic-epidemiologic studies of Al are complicated by different aims, criteria, methods and also by the fact that they are carried out in different popu lations [Schulze, 1956: Witkop, 1957: Chosack et al, 1979Sundell and Valentin, 1986], For example. Schulze [1956] reports the hypoplastic form to be related to XD inheritance in 9 large families living in the northern part of Germany, and Sundell and Valentin [1986] state that this inheri tance pattern could not be excluded in some of their families in the western part of Sweden associated with either the hypo plastic or the hypomineralization form.…”

Section: Discussionmentioning

confidence: 99%

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Amelogenesis imperfecta:A Genetic Study

Bäckman¹,

Holmgren

1988

Hum Hered

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The mode of inheritance and the clinical manifestations of amelogenesis imperfecta (AI) were studied in 51 families from the county of Västerbotten, northern Sweden. Autosomal dominant (AD) was the most probable mode of inheritance in 33 families, but X-linked dominant (XD) inheritance was a possible alternative in one family. Autosomal recessive (AR) inheritance was found likely in 6 and X-linked recessive inheritance in 2 families. Ten probands were sporadic cases. In the families with AD inheritance, a sex difference was observed between affected and non-affected cases, with an excess of females in the affected group (p < 0.05). In addition to the 78 index cases, 107 new cases were diagnosed. The clinical manifestations of AI observed could be divided into 2 forms, the hypoplastic form in 72% and the hypomineralization form in 28% of the individuals. AD inheritance was seen in 89% of the cases with the hypoplastic form, and in 44% of the cases with the hypomineralization form. In most families with AD or AR inheritance, each family displayed a characteristic manifestation of either hypoplastic or hypomineralization defects. In 3 families, both hypoplastic and hypomineralization forms of AI were seen. In families with X-linked inheritance, the clinical manifestation differed between females and males with males more seriously affected.

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Section: Discussionmentioning

confidence: 63%

Section: Discussionmentioning

confidence: 99%

Amelogenesis imperfecta:A Genetic Study

Bäckman¹,

Holmgren

1988

Hum Hered

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“…6 Prior to this study, no locus had been reported for autosomal recessive AI, though pedigrees suggesting its existence have been documented. 7,8 This mode of inheritance is particularly prevalent in Sweden, where autosomal recessive families are thought to account for 12% of cases in one study. 7 Syndromic forms of AI can be associated with: epilepsy (MIM: 226750), platyspondyly (MIM: 601216), nephrocalcinosis (MIM: 204690) sensorineural hearing loss (MIM: 234580) cone-rod dystrophy (MIM: 217080) in the pedigree studied here and with keratin and bone abnormalities in tricho-dento-osseous syndrome (MIM: 190320).…”

Section: Introductionmentioning

confidence: 99%

Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate

et al. 2002

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A consanguineous Arab pedigree in which recessive amelogenesis imperfecta (AI) and cone-rod dystrophy cosegregate, was screened for linkage to known retinal dystrophy and tooth abnormality loci by genotyping neighbouring microsatellite markers. This analysis resulted in linkage with a maximum lod score of 7.03 to the marker D2S2187 at the achromatopsia locus on chromosome 2q11, and haplotype analysis placed the gene(s) involved in a 2 cM/5 Mb interval between markers D2S2209 and D2S373. The CNGA3 gene, known to be involved in achromatopsia, lies in this interval but thorough analysis of its coding sequence revealed no mutation. Furthermore, affected individuals in four consanguineous recessive pedigrees with AI but without CRD were heterozygous at this locus, excluding it as a common cause of non-syndromic recessive AI. It remains to be established whether this pedigree is segregating two closely linked mutations causing disparate phenotypes or whether a single defect is causing pathology in both teeth and eyes.

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“…Prior to the identification of any genes known to cause AI, a variety of studies described the prevalence and phenotype of AI [Witkop et al, 1973;Witkop and Sauk, 1976;Rowley et al, 1982;Crawford and Aldred, 1988]. Population studies were conducted in the USA, Israel [Witkop, 1957;Chosack et al, 1979], and Scandinavian countries [Witkop, 1957;Chosack et al, 1979;Backman and Holm, 1986;Sundell, 1986;Backman, 1988] where 2 large groups affected by AI were described. Since the identification of the first gene known to cause AI, i.e.…”

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confidence: 99%

Amelogenesis Imperfecta: Genotype-Phenotype Studies in 71 Families

Wright

Torain

Long

et al. 2011

Cells Tissues Organs

116

108

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Amelogenesis imperfecta (AI) represents hereditary conditions affecting the quality and quantity of enamel. Six genes are known to cause AI (AMELX, ENAM, MMP20, KLK4, FAM83H, and WDR72). Our aim was to determine the distribution of different gene mutations in a large AI population and evaluate phenotype-genotype relationships. Affected and unaffected family members were evaluated clinically and radiographically by one examiner. Genotyping was completed using genomic DNA obtained from blood or saliva. A total of 494 individuals were enrolled, with 430 (224 affected, 202 unaffected, and 4 not definitive) belonging to 71 families with conditions consistent with the diagnosis of AI. Diverse clinical phenotypes were observed (i.e. hypoplastic, hypocalcified, and hypomaturation). Genotyping revealed mutations in all 6 candidate genes. A molecular diagnosis was made in 132 affected individuals (59%) and in 26 of the families (37%). Mutations involved 12 families with FAM83H (46%), 6 families with AMELX (23%), 3 families with ENAM (11%), 2 families with KLK4 and MMP20 (8% for each gene), and 1 family with a WDR72 mutation (4%). Phenotypic variants were associated with allelic FAM83H and AMELX mutations. Two seemingly unrelated families had the same KLK4 mutation. Families affected with AI where candidate gene mutations were not identified could have mutations not identifiable by traditional gene sequencing (e.g. exon deletion) or they could have promoter sequence mutations not evaluated in this study. However, the results suggest that there remain new AI causative genes to be identified.

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Amelogenesis imperfecta among Israeli Jews and the description of a new type of local hypoplastic autosomal recessive amelogenesis imperfecta

Cited by 85 publications

References 2 publications

Amelogenesis imperfecta:A Genetic Study

Amelogenesis imperfecta:A Genetic Study

Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate

Amelogenesis Imperfecta: Genotype-Phenotype Studies in 71 Families

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