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Zellweger’s Syndrome With PEX6 Gene Mutation in Mixteco Neonates Due to Possible Founder Effect

Zellweger spectrum disorder (ZSD) is a group of autosomal recessive peroxisomal disorders caused by PEX gene mutations that commonly present with symptoms of severe hypotonia, epileptic seizures, failure to thrive, hepatomegaly, craniofacial dysmorphisms, and sensorineural hearing loss. This article...

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Autores principales: Slaton, Daniel, Chang, Ashley, Ahluwalia, Tamanna, Alfaro, Sophie, Javed, Britani, Greer, Rocky
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10573658/
https://www.ncbi.nlm.nih.gov/pubmed/37842507
http://dx.doi.org/10.7759/cureus.45162
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author Slaton, Daniel
Chang, Ashley
Ahluwalia, Tamanna
Alfaro, Sophie
Javed, Britani
Greer, Rocky
author_facet Slaton, Daniel
Chang, Ashley
Ahluwalia, Tamanna
Alfaro, Sophie
Javed, Britani
Greer, Rocky
author_sort Slaton, Daniel
collection PubMed
description Zellweger spectrum disorder (ZSD) is a group of autosomal recessive peroxisomal disorders caused by PEX gene mutations that commonly present with symptoms of severe hypotonia, epileptic seizures, failure to thrive, hepatomegaly, craniofacial dysmorphisms, and sensorineural hearing loss. This article highlights three patients born with ZSD in Central California. All three patients were born to Mixteco mothers. Patients were genetically analyzed, which revealed mutations that correspond to ZSD. They presented with hypotonia at birth, abnormal hepatic panels, and increased fatty acid levels, findings consistent with Zellweger syndrome (ZS). However, only two of three patients displayed sensorineural hearing loss. Two of the patients failed to survive more than one year of age, which reflects the average life expectancy of an infant presenting with ZS. Observed and recorded cases of ZS in the Mixteco population have been postulated to be related to consanguinity and/or a founder effect. Studies have shown that autosomal recessive diseases are more prevalent in consanguineous populations. Consanguinity has been denied by patient 1 and is unknown for patients 2 and 3. Founder mutations have been implicated in areas with high rates of autosomal recessive diseases. All three of our Mixteco patients share a distinct lineage as well as a mutation at PEX6, leading us to believe that they suffered from an inherited founder mutation. The Mixteco population is not studied well enough to come to a definitive conclusion; however, the recognition of the relationship between ZS and Mixteco background is important, as it allows parents to plan accordingly and increases awareness in the community.
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spelling pubmed-105736582023-10-14 Zellweger’s Syndrome With PEX6 Gene Mutation in Mixteco Neonates Due to Possible Founder Effect Slaton, Daniel Chang, Ashley Ahluwalia, Tamanna Alfaro, Sophie Javed, Britani Greer, Rocky Cureus Pediatrics Zellweger spectrum disorder (ZSD) is a group of autosomal recessive peroxisomal disorders caused by PEX gene mutations that commonly present with symptoms of severe hypotonia, epileptic seizures, failure to thrive, hepatomegaly, craniofacial dysmorphisms, and sensorineural hearing loss. This article highlights three patients born with ZSD in Central California. All three patients were born to Mixteco mothers. Patients were genetically analyzed, which revealed mutations that correspond to ZSD. They presented with hypotonia at birth, abnormal hepatic panels, and increased fatty acid levels, findings consistent with Zellweger syndrome (ZS). However, only two of three patients displayed sensorineural hearing loss. Two of the patients failed to survive more than one year of age, which reflects the average life expectancy of an infant presenting with ZS. Observed and recorded cases of ZS in the Mixteco population have been postulated to be related to consanguinity and/or a founder effect. Studies have shown that autosomal recessive diseases are more prevalent in consanguineous populations. Consanguinity has been denied by patient 1 and is unknown for patients 2 and 3. Founder mutations have been implicated in areas with high rates of autosomal recessive diseases. All three of our Mixteco patients share a distinct lineage as well as a mutation at PEX6, leading us to believe that they suffered from an inherited founder mutation. The Mixteco population is not studied well enough to come to a definitive conclusion; however, the recognition of the relationship between ZS and Mixteco background is important, as it allows parents to plan accordingly and increases awareness in the community. Cureus 2023-09-13 /pmc/articles/PMC10573658/ /pubmed/37842507 http://dx.doi.org/10.7759/cureus.45162 Text en Copyright © 2023, Slaton et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Pediatrics
Slaton, Daniel
Chang, Ashley
Ahluwalia, Tamanna
Alfaro, Sophie
Javed, Britani
Greer, Rocky
Zellweger’s Syndrome With PEX6 Gene Mutation in Mixteco Neonates Due to Possible Founder Effect
title Zellweger’s Syndrome With PEX6 Gene Mutation in Mixteco Neonates Due to Possible Founder Effect
title_full Zellweger’s Syndrome With PEX6 Gene Mutation in Mixteco Neonates Due to Possible Founder Effect
title_fullStr Zellweger’s Syndrome With PEX6 Gene Mutation in Mixteco Neonates Due to Possible Founder Effect
title_full_unstemmed Zellweger’s Syndrome With PEX6 Gene Mutation in Mixteco Neonates Due to Possible Founder Effect
title_short Zellweger’s Syndrome With PEX6 Gene Mutation in Mixteco Neonates Due to Possible Founder Effect
title_sort zellweger’s syndrome with pex6 gene mutation in mixteco neonates due to possible founder effect
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10573658/
https://www.ncbi.nlm.nih.gov/pubmed/37842507
http://dx.doi.org/10.7759/cureus.45162
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