Hereditary sensory autonomic neuropathy type II: Report of two novel mutations in the <i>FAM134B</i> gene

Campos, Catarina Falcão de; Vidailhet, Marie; Toutain, Annick; Becdelièvre, Alix de; Funalot, Benoît; Bonello‐Palot, Nathalie; Stojkovic, Tanya

doi:10.1111/jns.12352

Cited by 11 publications

(15 citation statements)

References 10 publications

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“…FAM134B, including a 2-bp deletion causing a frameshift (p.P7GfsX133), a nonsense mutation (p.Q145X), and a mutation in the splice-donor consensus site of intron 7 (c.873 + 2 T > C) 8 . Afterward, many case reports show the same or different FAM134B mutations in patients with HSAN II [59][60][61][62][63] . For a more intuitive overview, we summarize some mutations of FAM134B in HSAN II in Table 1.…”

Section: Neuropathymentioning

confidence: 99%

Critical roles of FAM134B in ER-phagy and diseases

Jin

Zhang

2020

Cell Death Dis

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FAM134B (also called JK-1, RETREG1), a member of the family with sequence similarity 134, was originally discovered as an oncogene in esophageal squamous cell carcinoma. However, its most famous function is that of an ER-phagy-regulating receptor. Over the decades, the powerful biological functions of FAM134B were gradually revealed. Overwhelming evidence indicates that its dysfunction is related to pathophysiological processes such as neuropathy, viral replication, inflammation, and cancer. This review describes the biological functions of FAM134B, focusing on its role in ER-phagy. In addition, we summarize the diseases in which it is involved and review the underlying mechanisms.

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Section: Neuropathymentioning

confidence: 99%

Critical roles of FAM134B in ER-phagy and diseases

Jin

Zhang

2020

Cell Death Dis

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“…HSAN2 has four subtypes defined by molecular etiology: HSAN2A ( WNK1 , MIM# 201300), HSAN2B ( RETREG1, formerly known as FAM134B , MIM# 613115), HSAN2C ( KIF1A , MIM# 614213), and HSAN2D ( SCN9A , MIM# 243000) (Kurth 1993). Although there is no clear clinical distinction among subtypes, autonomic disorders may be especially prominent in HSAN2B caused by biallelic loss‐of‐function (LoF) variants in RETREG1 (Falcao de Campos et al, 2019; Kurth et al, 2009; Wakil et al, 2018). RETREG1 encodes a cis ‐Golgi transmembrane endoplasmic reticulum (ER) receptor regulating the ER turnover through reticulophagy (Islam et al, 2018).…”

Section: Introductionmentioning

confidence: 99%

“…Although there is no clear clinical distinction among subtypes, autonomic disorders may be especially prominent in HSAN2B caused by biallelic loss-of-function (LoF) variants in RETREG1 (Falcao de Campos et al, 2019;Kurth et al, 2009;Wakil et al, 2018). RETREG1 encodes a cis-Golgi transmembrane endoplasmic reticulum (ER) receptor regulating the ER turnover through reticulophagy (Islam et al, 2018).…”

Section: Introductionmentioning

confidence: 99%

Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family

Taşdelen

Calame

Akay

et al. 2022

American J of Med Genetics Pt A

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Hereditary sensory and autonomic neuropathy type 2B (HSAN2B) is a rare autosomal recessive peripheral neuropathy caused by biallelic variants in RETREG1 (formerly FAM134B). HSAN2B is characterized by sensory impairment resulting in skin ulcerations, amputations, and osteomyelitis as well as variable weakness, spasticity, and autonomic dysfunction. Here, we report four affected individuals with recurrent osteomyelitis, ulceration, and amputation of hands and feet, sensory neuropathy, hyperhidrosis, urinary incontinence, and renal failure from a family without any known shared parental ancestry. Due to the history of chronic recurrent multifocal osteomyelitis and microcytic anemia, a diagnosis of Majeed syndrome was considered; however, sequencing of LPIN2 was negative. Family‐based exome sequencing (ES) revealed a novel homozygous ultrarare RETREG1 variant NM_001034850.2:c.321G>A;p.Trp107Ter. Electrophysiological studies of the proband demonstrated axonal sensorimotor neuropathy predominantly in the lower extremities. Consistent with the lack of shared ancestry, the coefficient of inbreeding calculated from ES data was low (F = 0.002), but absence of heterozygosity (AOH) analysis demonstrated a 7.2 Mb AOH block surrounding the variant consistent with a founder allele. Two of the four affected individuals had unexplained renal failure which has not been reported in HSAN2B cases to date. Therefore, this report describes a novel RETREG1 founder allele and suggests renal failure may be an unrecognized feature of the RETREG1‐disease spectrum.

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“…Leg spasticity and weakness has been reported in some HSAN patients, which suggests involvement and degeneration of axons of upper motoneurons (Eggermann et al, 2018). Mutations in FAM134B are closely related to HSANIIB (Davidson et al, 2012; Falcão de Campos et al, 2019; Kurth et al, 2009; Luo et al, 2021; Murphy et al, 2012; Park et al, 2019; Tarailo‐Graovac et al, 2019; Taşdelen et al, 2022; Wakil et al, 2018; Zhu et al, 2021). Patients with this HSAN subtype develop autonomic dysfunction and impaired nociception, with extreme cases resulting in severe mutilation (Zhu et al, 2021).…”

Section: Cytoplasmic Receptorsmentioning

confidence: 99%

ER‐phagy in neurodegeneration

Hill

Sykes

Mellick

2023

J of Neuroscience Research

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There are many cellular mechanisms implicated in the initiation and progression of neurodegenerative disorders. However, age and the accumulation of unwanted cellular products are a common theme underlying many neurodegenerative diseases including Alzheimer's disease, Parkinson's disease, and Niemann–Pick type C. Autophagy has been studied extensively in these diseases and various genetic risk factors have implicated disruption in autophagy homoeostasis as a major pathogenic mechanism. Autophagy is essential in the maintenance of neuronal homeostasis, as their postmitotic nature makes them particularly susceptible to the damage caused by accumulation of defective or misfolded proteins, disease‐prone aggregates, and damaged organelles. Recently, autophagy of the endoplasmic reticulum (ER‐phagy) has been identified as a novel cellular mechanism for regulating ER morphology and response to cellular stress. As neurodegenerative diseases are generally precipitated by cellular stressors such as protein accumulation and environmental toxin exposure the role of ER‐phagy has begun to be investigated. In this review we discuss the current research in ER‐phagy and its involvement in neurodegenerative diseases.

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Hereditary sensory autonomic neuropathy type II: Report of two novel mutations in the FAM134B gene

Cited by 11 publications

References 10 publications

Critical roles of FAM134B in ER-phagy and diseases

Critical roles of FAM134B in ER-phagy and diseases

Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family

ER‐phagy in neurodegeneration

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