Slaton Daniel, Chang Ashley, Ahluwalia Tamanna, Alfaro Sophie, Javed Britani, Greer Rocky
School of Osteopathic Medicine, Andrew Taylor (AT) Still University, Mesa, USA.
Clinical Science Education, Andrew Taylor (AT) Still University, Mesa, USA.
Cureus. 2023 Sep 13;15(9):e45162. doi: 10.7759/cureus.45162. eCollection 2023 Sep.
Zellweger spectrum disorder (ZSD) is a group of autosomal recessive peroxisomal disorders caused by 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 , 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.
泽尔韦格谱障（ZSD）是一组常染色体隐性遗传性过氧化物酶体疾病，由基因突变引起，通常表现为严重肌张力减退、癫痫发作、发育不良、肝肿大、颅面畸形和感音神经性听力损失等症状。本文重点介绍了加利福尼亚中部出生的三名患有ZSD的患者。这三名患者的母亲均为米斯特克人。对患者进行了基因分析，结果显示存在与ZSD相关的突变。他们出生时表现出肌张力减退、肝功能指标异常以及脂肪酸水平升高，这些发现与泽尔韦格综合征（ZS）一致。然而，三名患者中只有两名表现出感音神经性听力损失。其中两名患者未能活过一岁，这反映了患有ZS的婴儿的平均预期寿命。据推测，在米斯特克人群中观察和记录到的ZS病例与近亲结婚和/或奠基者效应有关。研究表明，常染色体隐性疾病在近亲结婚人群中更为普遍。患者1否认有近亲结婚情况，患者2和3的情况未知。在常染色体隐性疾病发病率高的地区，已发现与奠基者突变有关。我们的三名米斯特克患者都有独特的谱系，并且在 处存在相同突变，这使我们认为他们患有遗传性奠基者突变。对米斯特克人群的研究还不够充分，无法得出明确结论；然而，认识到ZS与米斯特克背景之间的关系很重要，因为这可以让父母做出相应规划，并提高社区的认识。
