Variantes en el número de copias en trastornos del neurodesarrollo, síndrome malformativo y talla baja en Perú

Barriga, Hugo Hernán Abarca; Sotomayor, Flor Vásquez; Trubnykova, Milana; Velásquez, Felix Chavesta; Pastor, Miguel A Chávez; Jugo, Bertha Elena Gallardo; Poterico, Julio A.; Bedón, Nathaly Caballero; Infantes, Jorge La Serna; Vasquez-Loarte, Tania

doi:10.35663/amp.2020.372.915

Cited by 3 publications

(6 citation statements)

References 40 publications

(51 reference statements)

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“…For gains or losses are due to the compromise of at least 50/25 markers respectively. In ROHs, a length of at least 10 Mpb is impaired (19).…”

Section: Methodsmentioning

confidence: 99%

Determination of carriers of deafness-infertility syndrome in Peru

Cuellar,

Jascha,

Abarca-Barriga

2024

Preprint

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The prevalence of deafness-infertility syndrome (DIS) is approximately 1%. Genetic heterogeneity is one cause of homozygous copy number variants (CNVs) involving the CATSPER2 and STRC genes, which are associated with DIS and male infertility. Because the prevalence of DIS in Peru is unknown, we aimed to determine the frequency of carriers of DIS-related genes. In this descriptive crossover study, we evaluated the clinical histories and chromosomal microarray analysis results of patients at the Instituto Nacional de Salud del Niño Breña from 2015-2022. All patients with CNVs involving the CATSPER2 and STRC genes were included, and the frequencies of carriers and affected patients were determined using Hardy‒Weinberg equilibrium. Relative frequency differences were calculated using the chi-square test with goodness-of-fit for natural regions and poverty groups in Peru. Of 2,142 patients screened, 35 met the inclusion criteria; according to the results, approximately 367,364 people were estimated to be DIS carriers in Peru, and approximately 57,442 people had deafness and infertility. The proportion of carriers in Peru was similar to that observed in other population studies. Additionally, people in regions with higher poverty rates exhibited a greater carrier frequency, suggesting that a patient’s region of origin could be a criterion for DIS screening.

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“…For gains or losses are due to the compromise of at least 50/25 markers respectively. In ROHs, a length of at least 10 Mpb is impaired (19).…”

Section: Methodsmentioning

confidence: 99%

Determination of carriers of deafness-infertility syndrome in Peru

Cuellar,

Jascha,

Abarca-Barriga

2024

Preprint

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“…El coeficiente de endogamia (F) fue medido según las siguientes categorías: primer (ROH = 19 -38%, F = 1/4), segundo (ROH = 9,4 -18,9%, F = 1/8), tercer (ROH = 4,7 -9,3%, F = 1/16), cuarto (ROH = 2,4 -4,6%, F = 1/32) o quinto grado (ROH = 0,5 -2,39%, F = 1/64) (12,16) .…”

Section: Variablesunclassified

“…Las regiones de homocigosidad (ROH) son segmentos cromosómicos amplios que presentan haplotipos idénticos; y si sobrepasan el 0,5% de los cromosomas autosómicos, podría deberse a uniones consanguíneas (10) . Del 2010 al 2019, el análisis cromosómico por micromatrices o CMA (del inglés chromosomal microarray analysis) fue la prueba de elección para la determinación de variantes en el número de copias en pacientes con anomalías congénitas y algunos trastornos del neurodesarrollo (11)(12)(13) . Adicionalmente, algunas plataformas que realizan CMA también establecen las ROH basado en los polimorfismos de un solo nucleótido o SNP (del inglés single nucleotide polymorphism), el cual indica consanguinidad parental y disomías uniparentales (12) .…”

Section: Introductionunclassified

Consanguinidad no declarada en pacientes peruanos con trastorno del neurodesarrollo detectada a través de micromatrices

Barriga

Rosas

2023

An Fac med

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Introducción. La consanguinidad es la unión entre personas que comparten un ancestro en común, y cuya descendencia presenta un mayor riesgo de aparición de enfermedades autosómicas recesivas, manifestándose en algunos pacientes como trastornos del neurodesarrollo. Objetivos. Describir la consanguinidad parental no declarada en pacientes menores de 18 años con trastornos del neurodesarrollo, descubierta mediante el análisis cromosómico por micromatrices. Métodos. Se realizó el análisis cromosómico por micromatrices a 967 pacientes con trastorno del neurodesarrollo entre 2016 y 2021. Fueron seleccionados los pacientes con regiones de homocigosidad (ROH) con un valor superior a 0,5%. Resultados. Se evaluó a 288 pacientes, el 58,3% fueron varones y el 29,8% presentó una ROH mayor o igual a 0,5%. Se encontró que el 25,9% y el 0,83% de los pacientes tenían padres con un quinto y primer grado de consanguinidad no declarada, respectivamente. Los departamentos con mayor frecuencia relativa de consanguinidad no declarada por cada 10 000 habitantes fueron Huancavelica, Cajamarca y Apurímac. Conclusión. En Perú, existen regiones donde se evidencia uniones parentales consanguíneas, el cual es un factor de riesgo alto para la aparición de enfermedades recesivas autosómicas en su descendencia, como los trastornos del neurodesarrollo.

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“…Author details 1 Instituto de Investigación de Ciencias Biomédicas, Universidad Ricardo Palma, Avenida Benavides 5440, Santiago de Surco, Lima, Peru. 2 Servicio de Genética and Errores Innatos del Metabolismo, Instituto Nacional de Salud del Niño, Breña, Lima, Peru.…”

Section: Abbreviationsunclassified

“…Intellectual disability (ID) manifests before the age 18 years and is defined as a limitation in two areas: intelligence or mental capability, and adaptive behavior in any of its three domains (conceptual, social, and practical) [1]. The global prevalence of ID is 1-3%, and the copy number variations (CNV) are the cause of ID in 36.1% of these cases [2]. To date, more than 2000 genes associated with ID have been reported (https:// www.…”

Section: Introductionmentioning

confidence: 99%

Intellectual developmental disorder with dysmorphic facies and ptosis caused by copy number variation including the BRPF1 gene in Peruvian patient

Barriga

Velásquez

Luciano

2022

Egypt J Med Hum Genet

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Background Intellectual developmental disorder with dysmorphic facies and ptosis (MIM #617333) is a very rare condition, characterized by more than 80% by language delay, intellectual disability, gross motor development delay, broad nasal bridge, hypertelorism, and hypotonia. This condition exhibits as autosomal dominant inheritance and is caused by a heterozygous variant in the BRPF1 gene. Additionally, the copy number variation in the terminal region of chromosome 3p (MIM #613792) has been shown to manifest in most patients as intellectual disability, motor delay, and hypotonia. Case presentation We present an 18-year-old male patient with facial dysmorphism, intellectual disability, ptosis, and congenital heart disease. Using chromosomal microarray analysis, a previously unreported 90 kb deletion involving seven genes was found. Conclusion When comparing our findings with 39 previous reports, we found that the common clinical features of this syndrome, such as gross motor delay, hypotonia, and congenital spinal cord abnormalities, were not observed in this patient. From the seven genes implicated in the deletion, only BRPF1 could be strongly correlated with the phenotype, according to its function and haploinsufficiency coefficients.

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Variantes en el número de copias en trastornos del neurodesarrollo, síndrome malformativo y talla baja en Perú

Cited by 3 publications

References 40 publications

Determination of carriers of deafness-infertility syndrome in Peru

Determination of carriers of deafness-infertility syndrome in Peru

Consanguinidad no declarada en pacientes peruanos con trastorno del neurodesarrollo detectada a través de micromatrices

Intellectual developmental disorder with dysmorphic facies and ptosis caused by copy number variation including the BRPF1 gene in Peruvian patient

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