Ovarian Failure Related to Eukaryotic Initiation Factor 2B Mutations

Fogli, Anne; Rodriguez, Diana; Eymard-Pierre, Éléonore; Bouhour, Françoise; Labauge, Pierre; Meaney, Brandon; Zeesman, Susan; Kaneski, Christine R.; Schiffmann, Raphael; Boespflug‐Tanguy, Odile

doi:10.1086/375404

Cited by 173 publications

(107 citation statements)

References 30 publications

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“…The most severe form is the so-called "Cree" leukoencephalopathy with an infantile onset and early demise (Fogli et al, 2002). At the opposite end of the clinical spectrum are adult-onset forms associated with ovarian failure (ovarioleukodystrophy) and slow or absent neurological deterioration (Fogli et al, 2003). Magnetic resonance imaging (MRI) reveals a diagnostic pattern with symmetric and diffuse cerebral hemispheric leukoencephalopoathy in which increasing areas of abnormal white matter show a cerebrospinal fluid (CSF)-like signal intensity (van der Knaap et al, 1997).…”

Section: Introductionmentioning

confidence: 99%

Identification of ten novel mutations in patients with eIF2B-related disorders

et al. 2005

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Autosomal recessive inherited mutations in each of the five eukaryotic initiation factor 2B (eIF2B) subunits are known to cause white matter abnormalities with a wide continuum of clinical signs and severity leading to the concept of eIF2B-related disorders. The clinical spectrum extends from fatal infantile forms to adult forms with slow or absent neurological deterioration. In this study 15 well-characterised patients with the classical form of leukoencephalopathy with vanishing white matter (VWM) or with phenotypic variants like ovarioleukodystrophy were investigated for mutations in the genes EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5 encoding eIF2B. We identified one novel nonsense mutation

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Section: Introductionmentioning

confidence: 99%

Identification of ten novel mutations in patients with eIF2B-related disorders

et al. 2005

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“…Ovaries are the next most commonly involved organs and ovarian dysgenesis may cause primary or secondary amenorrhea [4,15,16]; Both of our patients did not have any ovarian pathology.…”

Section: Discussionmentioning

confidence: 56%

Childhood Ataxia With Central Nervous System Hypomyelination: A Report of First Two Cases With Juvenile and Adult - Onset Forms in a Turkish Family

Kenangil

2012

J Neurol Res

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Childhood ataxia with central nervous system hypomyelination (CACH)) is an inherited autosomal recessive white matter disease which is also known as leukoencephalopathy with vanishing white matter (VWM). Ataxia and spasticity are the predominant symptoms of the disease. It is a progressive disease with exacerbations. Manyetic resonance imaging (MRI) is diagnostic with diffuse white matter abnormalities. It can be seen at all ages but adult forms are rare. We report here the first two cases of juvenile and adult-onset forms of the disease in Turkey. They are two sisters with age of 21 and 25 who presented us with gait difficulty and spasticity. They had seizures and also the typical MRI findings of CACH. We should consider it in the differential diagnosis of gait difficulty, ataxia and spasticity in adult patients.

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“…The prevalence of the disorder is about 1:2500 live female births (Sybert & McCauley 2004). In women with 45,X karyotype, oocyte loss occurs in the early stages of meiotic prophase, resulting in gonadal dysgenesis and PA with Sedgwick & Boder (1991), Perheentupa (1996), Weinstein et al (2004), Fogli et al (2003Fogli et al ( , 2004, Beysen et al (2009) Zhao et al (2008a,b) elevated FSH levels since early childhood (Reynaud et al 2004, Fechner et al 2006. However, spontaneous menarche and pregnancy have been reported not only in patients with mosaic karyotype, but also in few nonmosaic 45,X women (Pasquino et al 1997, Cools et al 2004, Livadas et al 2005.…”

Section: Syndromic Poimentioning

confidence: 99%

“…Therefore, its dysfunction could be responsible for increased apoptosis of ovarian follicles. In seven patients who presented with POI and ovarian leukodystrophy, eight variants were found in EIF2B2, 4, and 5 (Fogli et al 2003). To further test the involvement of known mutations in EIF2B genes in POI, 93 patients with POI not associated with leukodystrophy or neurological symptoms have been investigated.…”

Section: Ovarian Leukodystrophymentioning

confidence: 99%

Genes involved in human premature ovarian failure

Persani

Rossetti

Cacciatore

2010

Journal of Molecular Endocrinology

207

108

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Premature ovarian failure (POF) is an ovarian defect characterized by the premature depletion of ovarian follicles before the age of 40 years, representing one major cause of female infertility. POF relevance is continuously growing because women tend to conceive ever more frequently in their thirties and forties. POF can present very early with a pubertal defect. More frequently, it is the end stage of an occult process (primary ovarian insufficiency, POI) affecting w1-2% of under-40 women. POI is a heterogeneous disease caused by a variety of mechanisms. Though the underlying cause remains unexplained in the majority of cases, various data indicate that POI has a strong genetic component. These data include the existence of several causal genetic defects in humans, experimental and natural models, as well as the frequent familiarity. The variable expressivity of POI defect in women of the same family may indicate that, in addition to some monogenic forms, POI may frequently be considered as a multifactorial defect resulting from the contribution of several predisposing alleles. The X chromosome-linked defects play a major role among the presently known causal defects. Here, we review the principal X-linked and autosomal genes involved in syndromic and nonsyndromic forms of POI with the wish that this list will soon become upgraded because of the discovery of novel contributing mechanisms. A better understanding of POI pathogenesis will indeed allow the construction of tests able to predict the age of menopause in women at higher risk of POI.

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Ovarian Failure Related to Eukaryotic Initiation Factor 2B Mutations

Cited by 173 publications

References 30 publications

Identification of ten novel mutations in patients with eIF2B-related disorders

Identification of ten novel mutations in patients with eIF2B-related disorders

Childhood Ataxia With Central Nervous System Hypomyelination: A Report of First Two Cases With Juvenile and Adult - Onset Forms in a Turkish Family

Genes involved in human premature ovarian failure

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