The utility of exome sequencing in diagnosing pediatric neurodevelopmental disorders in a highly consanguineous population.
Clin Genet
; 106(1): 82-89, 2024 Jul.
Article
en En
| MEDLINE
| ID: mdl-38438125
ABSTRACT
Exome sequencing (ES) has been utilized in diagnosing children with neurodevelopmental manifestations, this study aimed to investigate the utility of ES in children within a highly consanguineous population that presented with neurodevelopmental complaints. A retrospective chart review was performed for 405 children with neurodevelopmental complaints who have had ES and were evaluated in multiple centers in the United Arab Emirates over a four-year period. Within the cohort of 405 children, consanguinity was reported in 35% (144/405). The primary clinical presentations were developmental delay/cognitive impairment, distinctive facial features, hypotonia, seizures, and weakness. The diagnostic yield was 57% (231/405). Novel variants were identified in 54% (125/231) of positive cases. Within the positive cases, specific treatment was available in 6% (13/231) and copy number variants (CNV) were reported in 3% (8/231) of cases. In eight children, variants in genes that have not yet been linked to human disease that could potentially be the cause of the observed phenotype "candidate genes" were identified. ES was utilized effectively within this cohort with a high diagnostic yield and through the identification of novel gene variants, CNVs, candidate genes and secondary findings as well as the alteration of the treatment plan in cases where treatment was available.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Consanguinidad
/
Variaciones en el Número de Copia de ADN
/
Trastornos del Neurodesarrollo
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Secuenciación del Exoma
Límite:
Adolescent
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Child
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Child, preschool
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Female
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Humans
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Infant
/
Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
Clin Genet
Año:
2024
Tipo del documento:
Article
Pais de publicación:
Dinamarca