Molecular Basis of Mendelian Disorders among Jews

Zlotogora, Joël; Bach, Gideon; Münnich, Arnold

doi:10.1006/mgme.2000.2969

Cited by 33 publications

(26 citation statements)

References 58 publications

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“…Occurring worldwide in individuals of diverse ethnic background, FAP has been previously documented in only 2 Jewish families, both of Ashkenazi background; one had the Pro36 mutation [25], and the other carried the Ser6-Ile33 double variant [26]. Unlike these families, our patients originate in Yemen and belong to a geographically and traditionally isolated community [27]. Several Mendelian disorders occur with relatively high frequency in Yemenite Jews, including Machado-Joseph disease, which like FAP is common among individuals with Portuguese ancestry [28].…”

Section: Discussionmentioning

confidence: 95%

Extended Phenotype in the Transthyretin Tyr77 Familial Amyloid Polyneuropathy

Lossos¹,

Soffer²,

Steiner-Birmanns³

et al. 2005

Eur Neurol

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The transthyretin Tyr77 variant of familial amyloid polyneuropathy (FAP) has been identified in a few North American and European patients, but the full spectrum of its clinical manifestations is still not known. We report a 3-generation family of Jewish-Yemenite origin with Tyr77 FAP presenting with atypical features. The affected individuals had sensorimotor and autonomic neuropathy and cardiomyopathy accompanied by prominent dysphagia, hearing loss and asymptomatic carpal tunnel syndrome. Brain MRI in the proband showed multifocal white matter lesions. These features extend the reported Tyr77 phenotype and support the modifying effect of additional factors on the disease expression.

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Section: Discussionmentioning

confidence: 95%

Extended Phenotype in the Transthyretin Tyr77 Familial Amyloid Polyneuropathy

Lossos¹,

Soffer²,

Steiner-Birmanns³

et al. 2005

Eur Neurol

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“…At least 40 Mendelian disorders have been described in various Jewish groups; many of them are caused by prevalent founder mutations. For some disorders, each of these groups has its own unique set of disease alleles (Zlotogora et al, 2000;Ostrer, 2001). While the Ashkenazi Jewish population segregates two common founder mutations underlying USH1 and USH3 Ness et al, 2003), USH2 is rare in this population.…”

Section: Introductionmentioning

confidence: 99%

Four USH2A Founder Mutations Underlie the Majority of Usher Syndrome Type 2 Cases among Non-Ashkenazi Jews

et al. 2008

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Type 2 Usher syndrome (USH2) is a recessively inherited disorder, characterized by the combination of early onset, moderate-to-severe, sensorineural hearing loss, and vision impairment due to retinitis pigmentosa. From 74% to 90% of USH2 cases are caused by mutations of the USH2A gene. USH2A is composed of 72 exons, encoding for usherin, an extracellular matrix protein, which plays an important role in the development and maintenance of neurosensory cells in both retina and cochlea. To date, over 70 pathogenic mutations of USH2A have been reported in individuals of various ethnicities. Many of these mutations are rare private mutations segregating in single families. The aim of the current work was to investigate the genetic basis for USH2 among Jews of various origins. We found that four USH2A mutations (c.239-240insGTAC, c.1000C>T, c.2209C>T, and c.12067-2A>G) account for 64% of mutant alleles underlying USH2 in Jewish families of non-Ashkenazi descent. Considering the very large size of the USH2A gene and the high number of mutations detected in USH2 patients worldwide, our findings have significant implications for genetic counseling and carrier screening in various Jewish populations.

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“…Many founder mutations causing genetic diseases were exclusively found in a Jewish subgroup [Zlotogora et al, 2000]. Of special interest are the two diseases that are caused by an expansion mutation, the fragile X syndrome and Machado-Joseph disease (SCA3).…”

Section: Discussionmentioning

confidence: 99%

Prevalence of myotonic dystrophy in Israeli Jewish communities: Inter‐community variation and founder premutations

Segel¹,

Silverstein²,

Lerer³

et al. 2003

American J of Med Genetics Pt A

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In a comprehensive epidemiological survey among Jews living in Israel, the average prevalence of myotonic dystrophy (DM) was 15.7/10(5) (1 case in 6369) with intercommunity variations; the Ashkenazi Jews had the lowest rate, 5.7/10(5) (1 case in 17544) as compared to the rate in the Sephardim/Oriental Jews 20/10(5) (1 case in 5000) and the in the Yemenite Jews 47.3/10(5) (1 case in 2114). The rate of unrelated DM-sibships per 10(6) people of each community was used as an estimate of the transition rate from stable to unstable DMPK-(CTG)(n) alleles assuming that each transition is a beginning of a new DM sibship. This study indicated that the difference in the incidence of DM is a result of higher mutation rate in the non-Ashkenazi Jews (>50/10(6)) as compared to the rate in the Ashkenazi Jews (16.3/10(6)). The intragenic haplotype of the DM alleles was the same as that of the DM in many populations all over the world. However, two DM closely linked markers D19S207 and D19S112 were in linkage disequilibrium with the DM mutation in patients of Yemenite and Moroccan (the largest subgroup in the Sephardim Jews) extractions and not in the Ashkenazi patients. This observation indicated a common ancestral origin for the DM premutation in patients of the same ethnic origin. We concluded that the difference in the prevalence of DM among the Jewish communities is a consequence of founder premutations in the non-Ashkenazi Jewish communities.

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Molecular Basis of Mendelian Disorders among Jews

Cited by 33 publications

References 58 publications

Extended Phenotype in the Transthyretin Tyr77 Familial Amyloid Polyneuropathy

Extended Phenotype in the Transthyretin Tyr77 Familial Amyloid Polyneuropathy

Four USH2A Founder Mutations Underlie the Majority of Usher Syndrome Type 2 Cases among Non-Ashkenazi Jews

Prevalence of myotonic dystrophy in Israeli Jewish communities: Inter‐community variation and founder premutations

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