Pitfalls in Genetic Testing for Consanguineous Pediatric Populations
We describe the diagnostic odyssey of an eight-year-old female born to consanguineous parents. Our patient presented with global developmental delay, regression, microcephaly, spastic diplegia, and leukodystrophy confirmed on brain magnetic resonance imaging (MRI). She was found on whole exome seque...
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| Format: | Article |
| Language: | English |
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Wiley
2022-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2022/9393042 |
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| author | Maha Saleh Samantha Colaiacovo Melanie P. Napier Asuri N. Prasad C. Anthony Rupar Chitra Prasad |
| author_facet | Maha Saleh Samantha Colaiacovo Melanie P. Napier Asuri N. Prasad C. Anthony Rupar Chitra Prasad |
| author_sort | Maha Saleh |
| collection | DOAJ |
| description | We describe the diagnostic odyssey of an eight-year-old female born to consanguineous parents. Our patient presented with global developmental delay, regression, microcephaly, spastic diplegia, and leukodystrophy confirmed on brain magnetic resonance imaging (MRI). She was found on whole exome sequencing (WES) to have dual genetic diagnoses. The first was a homozygous pathogenic HERC2 gene partial deletion of exons 43–45 that causes HERC2-related disorder. The second was a homozygous pathogenic variant (c.836 C > T, p.A279 V) in the SUMF1 gene responsible for multiple sulfatase deficiency. This case highlights some of the challenges in diagnosing consanguineous pediatric populations where standard genetic and metabolic testing may not provide answers. Our case further supports the recent American College of Medical Genetics and Genomics (ACMG) recommendation of WES as a first or second-tier test for patients with developmental delay, particularly in a population where the chances of dual diagnosis is high. |
| format | Article |
| id | doaj-art-552b48ccc969443b9db8207a45c133aa |
| institution | Kabale University |
| issn | 2090-6552 |
| language | English |
| publishDate | 2022-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-552b48ccc969443b9db8207a45c133aa2025-02-03T05:53:38ZengWileyCase Reports in Genetics2090-65522022-01-01202210.1155/2022/9393042Pitfalls in Genetic Testing for Consanguineous Pediatric PopulationsMaha Saleh0Samantha Colaiacovo1Melanie P. Napier2Asuri N. Prasad3C. Anthony Rupar4Chitra Prasad5Division of Genetics and MetabolicsDivision of Genetics and MetabolicsDivision of Genetics and MetabolicsWestern UniversityDivision of Genetics and MetabolicsDivision of Genetics and MetabolicsWe describe the diagnostic odyssey of an eight-year-old female born to consanguineous parents. Our patient presented with global developmental delay, regression, microcephaly, spastic diplegia, and leukodystrophy confirmed on brain magnetic resonance imaging (MRI). She was found on whole exome sequencing (WES) to have dual genetic diagnoses. The first was a homozygous pathogenic HERC2 gene partial deletion of exons 43–45 that causes HERC2-related disorder. The second was a homozygous pathogenic variant (c.836 C > T, p.A279 V) in the SUMF1 gene responsible for multiple sulfatase deficiency. This case highlights some of the challenges in diagnosing consanguineous pediatric populations where standard genetic and metabolic testing may not provide answers. Our case further supports the recent American College of Medical Genetics and Genomics (ACMG) recommendation of WES as a first or second-tier test for patients with developmental delay, particularly in a population where the chances of dual diagnosis is high.http://dx.doi.org/10.1155/2022/9393042 |
| spellingShingle | Maha Saleh Samantha Colaiacovo Melanie P. Napier Asuri N. Prasad C. Anthony Rupar Chitra Prasad Pitfalls in Genetic Testing for Consanguineous Pediatric Populations Case Reports in Genetics |
| title | Pitfalls in Genetic Testing for Consanguineous Pediatric Populations |
| title_full | Pitfalls in Genetic Testing for Consanguineous Pediatric Populations |
| title_fullStr | Pitfalls in Genetic Testing for Consanguineous Pediatric Populations |
| title_full_unstemmed | Pitfalls in Genetic Testing for Consanguineous Pediatric Populations |
| title_short | Pitfalls in Genetic Testing for Consanguineous Pediatric Populations |
| title_sort | pitfalls in genetic testing for consanguineous pediatric populations |
| url | http://dx.doi.org/10.1155/2022/9393042 |
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