Case Report: The First Reported Concurrence of Wilson Disease and Bilateral Retinitis Pigmentosa

Ye, Zifan; Jia, Xian; Liu, Xin; Zhang, Qi; Wang, Kaijun; Chen, Min

doi:10.3389/fmed.2022.877752

Cited by 2 publications

(1 citation statement)

References 39 publications

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“…There are numerous reports of more than one rare homozygous disease-causing variant giving a combination of disease phenotypes. For example, a Chinese patient had both Wilson disease and retinitis pigmentosa and homozygous pathogenic variants were identified in ATP7B and CNGA1 accounting for the two phenotypes respectively [50]. Where concurrent inherited genetic disorders lead to overlapping phenotypes there can be diagnostic confusion.…”

Section: Consanguinity and Rare Genetic Diseasesmentioning

confidence: 99%

The impact of consanguinity on human health and disease with an emphasis on rare diseases

2022

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Purpose Consanguinity increases the likelihood of the inheritance of homozygous pathogenic alleles which may predispose to rare autosomal recessive disorders. Here we discuss the role of consanguinity in informing inherited disease with a focus on rare diseases. Methods We reviewed the literature concerning the impact of consanguinity on human diseases and chose examples to illustrate the most important themes. Results Consanguinity rates vary hugely between different populations influencing the prevalence of rare autosomal recessive diseases. Some founder genetic variants leading to human disease are specific for a single country, or a specific ethnic or geographic group while others are shared more widely. Inherited diseases of known molecular genetic etiology are characterized by their genotype and phenotype but many exhibit marked heterogeneity which may be population dependent. Increased rates of consanguinity are associated with rare autosomal recessive inherited diseases and can lead to more than one human genetic disease in affected individuals leading to complex and overlapping phenotypes. Next-generation sequencing strategies allow new insights into these cases. In contrast, the impact of consanguinity on malignancies and common multifactorial diseases is less predictable and needs further exploration. Conclusions High rates of consanguinity remain prevalent in certain populations and lead to an increased burden of rare autosomal recessive inherited diseases. Strategies to reduce consanguinity are needed to reduce these disease consequences and will require global improvements in education, social, and economic conditions.

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Section: Consanguinity and Rare Genetic Diseasesmentioning

confidence: 99%

The impact of consanguinity on human health and disease with an emphasis on rare diseases

2022

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Assessment of inbreeding depression on morphometric traits among North Indian population cohorts

Fatma,

Chauhan,

Afzal

2024

Discov Public Health

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Aim Inbreeding is thought to affect the morphometric parameters leading to lower health status among the progeny. The present study was aimed to investigate the repercussions of inbreeding on anthropometric traits, namely height, weight and body mass index (BMI). Subjects and methods The survey was conducted in two North Indian cities and total 813 individuals were randomly recruited from inbred and outbred families. The morphometric parameters of the subjects were measured using standard methods, BMI was calculated and categorized into underweight, normal weight and overweight. Family pedigrees were drawn and degree of inbreeding in terms of the inbreeding coefficient (F) was calculated. Results A significant decline in morphometric measures was observed among inbred individuals as compared to outbred ones. The mean differences (95% CI) were found significant for various inbred and first cousin categories as compared to outbred subjects (p < 0.05). We found the increased frequency of underweight individuals corresponding to the degree of inbreeding for different types of inbred categories (p = 2.086 × 10−9) and also for different subtypes of first cousin unions corresponding to their sex-linked inbreeding coefficients (p = 5.2 × 10−5). The regression slope and correlation coefficient revealed a fitness decline and depression in anthropometric measures (p < 0.05) with the increase in ‘F’ for all inbred groups and first cousin categories. Conclusions The present research confirms the adverse effects of inbreeding on morphometric parameters among inbred subjects. It has novelty in shedding light on the hitherto unreported differences in the consequences of inbreeding among different types of first cousin unions.

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Case Report: The First Reported Concurrence of Wilson Disease and Bilateral Retinitis Pigmentosa

Cited by 2 publications

References 39 publications

The impact of consanguinity on human health and disease with an emphasis on rare diseases

The impact of consanguinity on human health and disease with an emphasis on rare diseases

Assessment of inbreeding depression on morphometric traits among North Indian population cohorts

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