AI Article Synopsis
- - Neurodegeneration with brain iron accumulation 5 (NBIA5) is caused by mutations in the WDR45 gene and is inherited in an X-linked fashion.
- - The study presents three Iranian patients with distinct mutations in the WDR45 gene, identified through whole-exome sequencing, including c.697 C>T, c.657_658del, and c.1004_1005del.
- - Hypothyroidism was found in two of the cases, and overall, the clinical features were consistent with existing literature, highlighting the genetic diversity of this disorder in the Iranian population.
Article Abstract
Neurodegeneration with brain iron accumulation 5 (NBIA5) is a distinctive type of NBIA phenotype that is caused by mutations in the WDR45 gene. This disorder is inherited in an X-linked manner. Here, we report three Iranian cases affected with this condition. Whole-exome sequencing revealed the following pathogenic variants within WDR45 gene in these cases, respectively: c.697 C > T (p.R233X), c.657_658del (p.F221X) and c.1004_1005del (p.Y335Cfs*5). Hypothyroidism was detected in two cases. Other clinical manifestations did not significantly differ from cases reported in the literature. All cases occurred de novo. Similar mutations have been reported in the literature. The present study broadens the insight about the genetics of this disorder in the mentioned population.
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| http://dx.doi.org/10.1007/s10048-024-00783-7 | DOI Listing |
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