Zellweger's Syndrome With PEX6 Gene Mutation in Mixteco Neonates Due to Possible Founder Effect
Daniel Slaton1, Ashley Chang1, Tamanna Ahluwalia1
1School of Osteopathic Medicine, Andrew Taylor (AT) Still University, Mesa, USA.
Cureus
|October 16, 2023
Summary
Zellweger spectrum disorder (ZSD) is a rare genetic condition. This study identifies a potential founder mutation in the PEX6 gene within the Mixteco population, impacting families with Zellweger syndrome (ZS).
Area of Science:
- Genetics
- Biochemistry
- Pediatrics
Background:
- Zellweger spectrum disorder (ZSD) comprises inherited peroxisomal diseases stemming from PEX gene mutations.
- Commonly presents with severe hypotonia, seizures, failure to thrive, hepatomegaly, dysmorphisms, and hearing loss.
Observation:
- Three infants of Mixteco heritage in Central California were diagnosed with ZSD.
- Clinical manifestations included hypotonia, abnormal liver function, and elevated fatty acids, consistent with Zellweger syndrome (ZS).
- Sensorineural hearing loss was present in two patients; two did not survive past one year.
Findings:
- Genetic analysis revealed PEX6 mutations in all three patients.
- A shared distinct lineage suggests an inherited founder mutation within the Mixteco population.
- Autosomal recessive diseases are often more prevalent in consanguineous populations.
Implications:
- Recognizing the link between ZS and the Mixteco background is crucial for parental planning and community awareness.
- Further research is needed to confirm founder effects in this population.
- Early identification and genetic counseling can aid families affected by ZSD.
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