Are hypersegmented neutrophils a characteristic of Boucher–Neuhäuser syndrome?

Umehara, Tadashi; Yaguchi, Hiroshi; Suzuki, Masahiko; Isozaki, Eiji; Mochio, Soichiro

doi:10.1016/j.jns.2010.05.005

Cited by 10 publications

(6 citation statements)

References 5 publications

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“…It is also associated with Boucher-Neuhäuser syndrome (Umehara et al 2010; Koh et al 2015), a lipid metabolic defect. In rats, vitamin A deficiency caused hypersegmentation, linked to a requirement of retinoids for differentiation of promyelocytes to mature neutrophils (Twining et al 1996).…”

Section: Lobed or Segmented Nucleimentioning

confidence: 99%

Nuclear morphologies: their diversity and functional relevance

2016

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Studies of chromosome and genome biology often focus on condensed chromatin in the form of chromosomes and neglect the non-dividing cells. Even when interphase nuclei are considered, they are often then treated as interchangeable round objects. However, different cell types can have very different nuclear shapes, and these shapes have impacts on cellular function; indeed, many pathologies are linked with alterations to nuclear shape. In this review, we describe some of the nuclear morphologies beyond the spherical and ovoid. Many of the leukocytes of the immune system have lobed nuclei, which aid their flexibility and migration; smooth muscle cells have a spindle shaped nucleus, which must deform during muscle contractions; spermatozoa have highly condensed nuclei which adopt varied shapes, potentially associated with swimming efficiency. Nuclei are not passive passengers within the cell. There are clear effects of nuclear shape on the transcriptional activity of the cell. Recent work has shown that regulation of gene expression can be influenced by nuclear morphology, and that cells can drastically remodel their chromatin during differentiation. The link between the nucleoskeleton and the cytoskeleton at the nuclear envelope provides a mechanism for transmission of mechanical forces into the nucleus, directly affecting chromatin compaction and organisation.

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Section: Lobed or Segmented Nucleimentioning

confidence: 99%

Nuclear morphologies: their diversity and functional relevance

2016

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“…7,8 We found hypersegmented neutrophils in patients 1 and 2, indicating that BNS patients with PNPLA6 mutations might have hypersegmented neutrophils. However, why hypersegmented neutrophils occurred is not clear.…”

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confidence: 61%

“…[5][6][7] Here we describe a novel compound heterozygous mutation and a novel homozygous one in the PNPLA6 gene in two Japanese patients with BNS. Furthermore, as hypersegmented neutrophils were reported in two BNS families including our patients, 8,9 we attempted to find hypersegmented neutrophils in BNS genetically proven patients.…”

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confidence: 97%

Novel mutations in the PNPLA6 gene in Boucher-Neuhäuser syndrome

et al. 2015

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On whole-exome sequencing, a novel compound heterozygous mutation (c.2923A>G/c.3523_3524insTGTCCG, p.T975A/p.1175_1176insVS) and a novel homozygous one (c.3534G>C, p.W1178C) in the PNPLA6 gene were identified in sporadic and familial Japanese patients with Boucher-Neuhäuser syndrome (BNS), respectively. However, we did not find any mutations in the PNPLA6 gene in 88 patients with autosomal recessive hereditary spastic paraplegia (ARHSP). Our study confirmed the earlier report that a PNPLA6 mutation causes BNS. This is the first report on PNPLA6 mutations in non-Caucasian patients. Meanwhile, PNPLA6 mutations might be extremely rare in Japanese ARHSP patients. Moreover, we first found hypersegmented neutrophils in two BNS patients with PNPLA6 mutations.

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“…Chorioretinal degeneration has been reported in all cases 10,13,21–28 . Hypersegmented neutrophils can also be found 25,29 . The most commonly associated causative gene, PNPLA6 (patatin like phospholipase domain containing 6) is involved in neuronal differentiation and gonadotropin release from the pituitary gland, mediated through impaired vesicular transport 13,14 .…”

Section: Movement Disorders With Hypogonadismmentioning

confidence: 99%

Movement Disorders Associated with Hypogonadism

Gonzàlez‐Latapi

Sousa

Lang

2021

Movement Disord Clin Pract

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A variety of movement disorders can be associated with hypogonadism. Identification of this association may aid in guiding workup and reaching an accurate diagnosis. We conducted a comprehensive and structured search to identify the most common movement disorders associated with hypogonadism. Only Case Reports and Case Series articles were included. Ataxia was the most common movement disorder associated with hypogonadism, including entities such as Gordon‐Holmes syndrome, Boucher‐Neuhäuser, Marinesco‐Sjögren and Perrault syndrome. Tremor was also commonly described, particularly with aneuploidies such as Klinefelter syndrome and Jacob's syndrome. Other rare conditions including mitochondrial disorders and Woodhouse‐Sakati syndrome are associated with dystonia and parkinsonism and either hypo or hypergonadotropic hypogonadism. We also highlight those entities where a combination of movement disorders is present. Hypogonadism may be more commonly associated with movement disorders than previously appreciated. It is important for the clinician to be aware of this association, as well as accompanying symptoms in order to reach a precise diagnosis.

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Are hypersegmented neutrophils a characteristic of Boucher–Neuhäuser syndrome?

Cited by 10 publications

References 5 publications

Nuclear morphologies: their diversity and functional relevance

Nuclear morphologies: their diversity and functional relevance

Novel mutations in the PNPLA6 gene in Boucher-Neuhäuser syndrome

Movement Disorders Associated with Hypogonadism

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