Two siblings with PEX11B-related peroxisome biogenesis disorder

IF 1.6 4区 医学 Q3 GENETICS & HEREDITY
Somayeh Khoddam , Neda Kamal , Amirmasoud Shiri , Hossein Jafari Khamirani , Jamal Manoochehri , Mehdi Dianatpour , Seyed Mohammad Bagher Tabei , Seyed Alireza Dastgheib
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引用次数: 0

Abstract

The PEX11β gene contains four exons and encodes peroxisomal membrane protein 11β, which is involved in peroxisome proliferation and division. Pathogenic variants in this gene result in a rare genetic disorder with autosomal recessive inheritance called peroxisome biogenesis disorder 14B (MIM: 614920). Here, we report two affected siblings with a novel variant (NM_003846: c.11G > A, p. Trp4Ter) in the PEX11β gene that was identified by whole exome sequencing and confirmed by Sanger sequencing. The proband is a 22-year-old Iranian female who was born to consanguineous parents. The homozygous variant (NM_003846: c.11G > A, p. Trp4Ter) in the PEX11β gene was identified in the proband, who presented with cataracts, strabismus, nystagmus, intellectual disability, developmental delay, speech disorders, dry skin, and behavioral problems. Her younger affected brother, who had the same homozygous variant, suffered from similar but slightly milder symptoms. This paper reports the seventh family in the world with novel pathogenic variants in the PEX11β gene as the cause of peroxisome biogenesis disorder 14B. Additionally, the phenotypes of the previously reported patients are reviewed. Some of the phenotypes, such as bilateral congenital cataracts and intellectual disability, were present in all patients. However, other observed symptoms in previous cases, such as abnormal gait, myopia, abnormal muscle strength, hearing loss, gastrointestinal problems, skeletal disorders, and seizures, were not observed in the patients of this study. Further studies on this disorder could be valuable in determining the precise phenotype characteristics of this disease.

两个兄弟姐妹患有与 PEX11B 相关的过氧化物酶体生物发生障碍。
PEX11β 基因包含四个外显子,编码过氧化物酶体膜蛋白 11β,该蛋白参与过氧化物酶体的增殖和分裂。该基因的致病变异可导致一种罕见的常染色体隐性遗传疾病--过氧化物酶体生物发生障碍 14B(MIM: 614920)。在此,我们报告了两对受影响的兄弟姐妹,他们的 PEX11β 基因中存在一个新型变体(NM_003846:c.11G > A, p. Trp4Ter),该变体通过全外显子组测序确定,并通过桑格测序确认。患者是一名 22 岁的伊朗女性,父母为近亲结婚。她患有白内障、斜视、眼球震颤、智力障碍、发育迟缓、语言障碍、皮肤干燥和行为问题。她的弟弟也有同样的同卵变异,症状相似但稍轻。本文报告了世界上第七个因 PEX11β 基因的新型致病变体而导致过氧化物酶体生物发生障碍 14B 的家族。此外,本文还回顾了之前报道的患者的表型。有些表型,如双侧先天性白内障和智力障碍,在所有患者中都存在。然而,在以往病例中观察到的其他症状,如步态异常、近视、肌力异常、听力损失、胃肠道问题、骨骼疾病和癫痫发作等,在本研究的患者中并未观察到。对这种疾病的进一步研究对于确定这种疾病的确切表型特征可能很有价值。
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来源期刊
CiteScore
4.10
自引率
0.00%
发文量
193
审稿时长
66 days
期刊介绍: The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models. Original clinical and experimental research articles, short clinical reports, review articles and letters to the editor are welcome on topics such as : • Dysmorphology and syndrome delineation • Molecular genetics and molecular cytogenetics of inherited disorders • Clinical applications of genomics and nextgen sequencing technologies • Syndromal cancer genetics • Behavioral genetics • Community genetics • Fetal pathology and prenatal diagnosis • Genetic counseling.
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