Dataset Information

[Copy number variation and parental consanguinity elevated in newborns of high altitude with major congenital anomalies in Peru].

ABSTRACT:

Introduction

Congenital abnormalities could be caused by copy number variation or homozygous variants inherited of parental consanguineous. Purpose.

Objetive

To show copy number variants and regions of homozygosity in neonates with malformative syndrome or one congenital anomaly major associated to facial dysmorphia or hypotonia.

Methodology

Performed chromosomal microarray analysis (CGH/SNP) to 60 neonates with congenital anomalies born in Hospital Antonio Lorena and Hospital Regional Cusco.

Results

70% of the newborns had an abnormal test (n=42); 48,3% (n=29) patients had with regions of homozygosity above to 0,5% (endogamy coefficient up to 1/64). Pathogenic or likely pathogenic copy number variations with or without region of homozygosity were present in 14,2% (n=6) newborns with congenital abnormalities. We founded five patients with uncertain pathogenic copy number variations that have not been described previously and might correlate with phenotype.

Conclusion

We founded a similar frequency of CNV in newborns with congenital abnormalities compared to previous reports. Nonetheless, parental consanguinity was increased compared to other countries of South America. This is the first report in Peru that showed to CMA as a useful diagnostic method in patients with congenital abnormalities and is pioneer in relation to other countries in Latinoamerica.

SUBMITTER: Abarca Barriga HH

PROVIDER: S-EPMC9426322 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature

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Publications

[Copy number variation and parental consanguinity elevated in newborns of high altitude with major congenital anomalies in Perú].

Abarca Barriga Hugo Hernán HH Chavesta Velásquez Felix F Barletta Carrillo Claudia C Paucarmayta Tacuri Abel A Bazán Hurtado Margaret M Vásquez Loarte Tania T Ordoñez Rondón Luis L Ordoñez Linares Marco M Rondón Abuhadba Evelina Andrea EA

Revista de la Facultad de Ciencias Medicas (Cordoba, Argentina) 20220606 2

<h4>Introduction</h4>Congenital abnormalities could be caused by copy number variation or homozygous variants inherited of parental consanguineous. Purpose.<h4>Objetive</h4>To show copy number variants and regions of homozygosity in neonates with malformative syndrome or one congenital anomaly major associated to facial dysmorphia or hypotonia.<h4>Methodology</h4>Performed chromosomal microarray analysis (CGH/SNP) to 60 neonates with congenital anomalies born in Hospital Antonio Lorena and Hospi ...[more]

PMID: 35700460

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Project description:BackgroundCongenital anomalies of the kidneys and urinary tract (CAKUT) are the most common cause of chronic kidney disease among children and adults younger than 30 yr. In our previous study, whole-exome sequencing (WES) identified a known monogenic cause of isolated or syndromic CAKUT in 13% of families with CAKUT. However, WES has limitations and detection of copy number variations (CNV) is technically challenging, and CNVs causative of CAKUT have previously been detected in up to 16% of cases.ObjectiveTo detect CNVs causing CAKUT in this WES cohort and increase the diagnostic yield.Design setting and participantsWe performed a genome-wide single nucleotide polymorphism (SNP)-based CNV analysis on the same CAKUT cohort for whom WES was previously conducted.Outcome measurements and statistical analysisWe evaluated and classified the CNVs using previously published predefined criteria.Results and limitationsIn a cohort of 170 CAKUT families, we detected a pathogenic CNV known to cause CAKUT in nine families (5.29%, 9/170). There were no competing variants on genome-wide CNV analysis or WES analysis. In addition, we identified novel likely pathogenic CNVs that may cause a CAKUT phenotype in three of the 170 families (1.76%).ConclusionsCNV analysis in this cohort of 170 CAKUT families previously examined via WES increased the rate of diagnosis of genetic causes of CAKUT from 13% on WES to 18% on WES + CNV analysis combined. We also identified three candidate loci that may potentially cause CAKUT.Patient summaryWe conducted a genetics study on families with congenital anomalies of the kidney and urinary tract (CAKUT). We identified gene mutations that can explain CAKUT symptoms in 5.29% of the families, which increased the percentage of genetic causes of CAKUT to 18% from a previous study, so roughly one in five of our patients with CAKUT had a genetic cause. These analyses can help patients with CAKUT and their families in identifying a possible genetic cause.