Fragile X Disorders among Nigerian Children with neurodevelopmental delays and women with suspected Fragile X-associated Primary Ovarian Insufficiency

Published: 23 May 2026| Version 1 | DOI: 10.17632/rw75h92h93.1
Contributors:
chioma mbachu, Flora Tassone, Ngozi Umeadi, Amalachukwu Odita, Samuel Ilikannu, Chizalu Ndukwu, Binye Ofojebe, Maria-regina Idume, Adaeze Obiegbu, Amara Egbogu, Obed Azubike, Ikechukwu Mbachu, Wilson Igwe, Joy Ebenebe, Ye Hyun Hwang, Clement Ezechukwu, Randi Hagerman

Description

This dataset contains information of a pilot targeted screening for Fragile X disorders among Nigerian children with neurodevelopmental disorders and women with Fragile X-associated Primary Ovarian Insufficiency (FXPOI). The study hypothesized that Fragile X-related mutations are underrecognized in Nigeria. The dataset includes sociodemographic, clinical, and molecular genetic data obtained through clinical assessment and FMR1 PCR-based testing. Children screened had autism, intellectual disability, developmental delay, and related disorders, while women had features suggestive of FXPOI. The data demonstrates the feasibility of targeted Fragile X screening in Nigeria and provide insight into the clinical presentation and distribution of Fragile X-related mutations in an understudied African population.

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Intellectual Disability, Neurodevelopmental Disorder, Autism Spectrum Disorder

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