Extensive founder effect for distal renal tubular acidosis (dRTA) with sensorineural deafness in an isolated South American population

Nikali, Kaisu; Vanegas, Juan José; Burley, Mari-Wyn; Martinez, Juliana; López, L Medrano; Bedoya, Gabriel; Wrong, Oliver; Povey, Sue; Unwin, Robert J.; Ruiz-Linares, Andrés

doi:10.1002/ajmg.a.32495

Cited by 8 publications

(8 citation statements)

References 24 publications

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“…Studies to date have shown that mutations in ATP6V1B1 cause DRTA with SNHL, whereas mutations in ATP6V0A4 cause DRTA with either normal hearing or later onset hearing loss. 4,12,15 The C to T transition at nucleotide position 91 (c.91C4T) found in family 153 results in a stop codon at amino acid 31 (p.R31X). Homozygous p.R31X was originally reported in three unrelated families from Turkey and Spain, but clinical aspects of these families were not reported.…”

Section: Discussionmentioning

confidence: 99%

ATP6V1B1mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families

Uzak¹,

Çakar²,

Çomak³

et al. 2013

Renal Failure

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Distal renal tubular acidosis (DRTA) is characterized by tubular defects in urinary acidification and hyperchloremic metabolic acidosis, hypokalemia, hypercalciuria, hypocitraturia, nephrocalcinosis and nephrolithiasis. Mutations in ATP6V1B1 cause DRTA associated with sensorineural hearing loss. The objective of this multicenter study is to screen DRTA patients with sensorineural hearing loss for ATP6V1B1 gene mutations and present genotype/phenotype correlation. Clinical data in five unrelated consanguineous families with DRTA and hearing loss were obtained in Turkey. For mutation screening, all coding exons of ATP6V1B1 were PCR amplified and sequenced from genomic DNA. In our cohort of five families, there were four different homozygous ATP6V1B1 mutations in affected individuals: c.91C4T (p.R31X), c.232G4A (p.G78R), c.497delC (p.T166RfsX9) and c.1155dupC (p.I386HfsX56). Our study shows that rare and family-specific variants in ATP6V1B1 are responsible for DRTA and sensorineural hearing loss syndrome in Turkey. While firm genotype–phenotype correlations are not available, detailed clinical and molecular analyses provide data to be used in genetic counseling.

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Section: Discussionmentioning

confidence: 99%

ATP6V1B1mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families

Uzak¹,

Çakar²,

Çomak³

et al. 2013

Renal Failure

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“…In addition, Antioquia has been considered a genetic isolate, and with high frequency of inbreeding and founder effect; which could partly explain the relative high prevalence of orphan diseases [36][37][38][39][40][41][42]. These results together support the hypothesis that within the predominantly mestizo Latin American population, there are ethnic groups and subpopulations with different risk for ALS occurrence [18].…”

Section: Discussionmentioning

confidence: 65%

Prevalence, Incidence, and Clinical-Epidemiological Characterization of Amyotrophic Lateral Sclerosis in Antioquia: Colombia

et al. 2019

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Introduction: The prevalence and incidence of amyotrophic lateral sclerosis (ALS) is not fully established, and this varies depending on the studied population. Objective: To estimate the prevalence/incidence of ALS patients in Antioquia-Colombia. Methodology: Observational/descriptive study by reviewing clinical records from 2010 to 2014. Cases with possible, probable and definite ALS were included. To estimate the prevalence/incidence, capture-recapture method was used. Results: Point prevalence in December 2014 was 4.9/100,000 (95% CI 2.0-7.8), and the incidence was 1.4/100,000/year (95% CI 0.5-2.2). The median survival was 4 years. Spinal-onset was observed in 62.4% of the included patients. Conclusion: Prevalence, incidence and clinical presentation of ALS in Antioquia are similar to most studies reported worldwide. However, prevalence in Antioquia seems to be slightly higher than in other studies from Latin American countries. This may derive from the inclusion criteria and case detection methodology adopted, but sociodemographic and genetic factors should be considered.

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“…Estas mutaciones están localizadas en alguna región del genoma que está en desequilibrio de ligamiento, transmitiéndose como una unidad (15). Así, estos cambios genéticos son heredados y están restringidos a una o pocas poblaciones de una región geográfica, situación que ha sido reportada para la población "paisa" (Antioquia, Caldas, Risaralda y Quindío) para otras enfermedades (18,19) y que explica la gran variabilidad encontrada en diferentes regiones (15,20).…”

Section: Introductionunclassified

Interacciones génicas implicadas en la aparición anticipada de cáncer de mama invasor en la población “paisa” - Colombia

Martínez-Garro

Valle

Duque-Giraldo

et al. 2019

CES Med

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El cáncer de mama invasor es una neoplasia de origen multifactorial en el cual están involucrados tanto componentes genéticos, como no genéticos, los cuales pueden modular su aparición temprana. El objetivo de este estudio es evaluar la participación de los componentes genéticos. Metodología: se analizaron 165 mujeres con cáncer de mama pertenecientes a la población “paisa” y estratificadas por edad de diagnóstico. Se evaluaron variables no genéticas y, de forma indirecta, variables genéticas usando marcadores tipo short tándem repeats (STR). Resultados: no se detectaron diferencias en cuanto a los factores de riesgo no genético entre pacientes mayores y menores de 50 años, ni al evaluar los genes de forma individual. Al comparar combinaciones genéticas se detectaron dos interacciones génicas en mujeres menores de 50 años: BRCA2-BRCA1 (p= 0,04) y BRCA2-ATM (p= 0,008). Conclusión: estos resultados sugieren la participación de la interacción de dichos genes en la aparición de cáncer de mama antes de los 50 años. Dado que el estudio se hizo con marcadores indirectos es necesario realizar estudios posteriores para identificar las mutaciones funcionales que soporten estos hallazgos.

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Extensive founder effect for distal renal tubular acidosis (dRTA) with sensorineural deafness in an isolated South American population

Cited by 8 publications

References 24 publications

ATP6V1B1mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families

ATP6V1B1mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families

Prevalence, Incidence, and Clinical-Epidemiological Characterization of Amyotrophic Lateral Sclerosis in Antioquia: Colombia

Interacciones génicas implicadas en la aparición anticipada de cáncer de mama invasor en la población “paisa” - Colombia

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