Relative fertility and mutation rate in neurofibromatosis

Samuelsson, Birgitta; Åkesson, Hans Olof

doi:10.1111/j.1601-5223.1988.tb00297.x

Cited by 12 publications

(9 citation statements)

References 1 publication

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“…A 1988 study of all individuals with "neurofibromatosis" in Gothenburg, Sweden found a reduction in fertility by~20% and ascribed the difference to social rather than biologic factors. 113 There are limited data on the safety of oral or depot contraceptives in women with NF1. However, the prevention of unintended pregnancy is important, and thus the benefits likely outweigh any theoretical concerns.…”

Section: Contraception Pregnancy and Assisted Fertilitymentioning

confidence: 99%

Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Stewart

Korf

Nathanson

et al. 2018

Genetics in Medicine

147

121

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Patient education and sensitization to worrisome signs and symptoms such as progressive severe pain (MPNST), changes in tumor volume (MPNST), new, unexplained neurologic symptoms (MPNST, brain tumors), and diaphoresis/palpitations (pheochromocytoma) are important. Although many issues in adults with NF1 can be managed by an internist or family physician, we strongly encourage evaluation by, and care coordination with, a specialized NF1 clinic.

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Section: Contraception Pregnancy and Assisted Fertilitymentioning

confidence: 99%

Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Stewart

Korf

Nathanson

et al. 2018

Genetics in Medicine

147

121

View full text Add to dashboard Cite

show abstract

“…In a study of young adults, Garty, Laor, and Danon (1994) reported that the IQ scores of 17-year-old Israeli military recruits with NF-1 were not significantly lower than those of the non-NF-1 recruits once the scores were corrected for gender and ethnic origin. Researchers in Sweden undertook an extensive evaluation of NF-1 in the city of Gothenburg (Samuelsson & Akesson, 1989;Samuelsson & Riccardi, 1989a, 1989b. The study examined intelligence in 71 patients, all 20 years of age or older.…”

Section: Cognitive Correlates Of Nf-1 In Adultsmentioning

confidence: 99%

Neuropsychological Function in Adults With Von Recklinghausen's Neurofibromatosis

Pavol¹,

Hiscock²,

Massman³

et al. 2006

Developmental Neuropsychology

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The cognitive function of adults with von Recklinghausen's neurofibromatosis (NF-1) was examined. This study sought to replicate in an adult sample the findings of decreased visuospatial and attention abilities reported for many children with NF-1. Specifically, it was anticipated that adults with NF-1 would be classified separately from unaffected controls according to visual and attention-executive function skills. Second, this study examined whether language skills discriminated between adults with NF-1 and unaffected controls. The sample included 20 participants with NF-1 and 25 control participants. All participants were administered a battery of neuropsychological tests (Developmental Test of Visual-Motor Integration (VMI), Judgment of Line Orientation (JLO), Visual Form Discrimination, Booklet Category Test, Figure Cancellation, Peabody Picture Vocabulary Test-Revised (PPVT-R), Sentence Repetition, Controlled Oral Word Association). The results of a discriminant function analysis partially supported the hypothesis: Two of the tests of visual-spatial skill (VMI, JLO) and one of the language tests (PPVT-R) were found to be the best predictors for group membership. The discriminant function accounted for 45% of the variance between the groups and correctly classified 15 of the NF-1 participants and 21 of the control participants. Post hoc exploratory analyses revealed that the VMI was the most important test in discriminating between the groups. It is suggested that patients with NF-1 will tend to have sparing of basic cognitive functions but will have greater impairment on tests that use multiple cognitive skills.

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“…Despite reproductive fitness being reduced in individuals with NF1 [2–4, 6], gonadal function has not been well characterized. Delayed puberty [9] and early menopause [11] suggest that reproductive function may be altered in people with NF1.…”

Section: Discussionmentioning

confidence: 99%

“…Individuals with NF1 have fewer children, on average, than individuals in the general population, and this reduction in fertility is greater in males than females [2–6]. This reduction in reproductive fitness has been attributed to social rather than biological factors [2, 4], but gonadal function has rarely been examined in patients with NF1. One, German study [7] found decreased libido in males with NF1 and one French study [8] described testicular dystrophy.…”

Section: Introductionmentioning

confidence: 99%

Neurofibromin haploinsufficiency results in altered spermatogenesis in a mouse model of neurofibromatosis type 1

et al. 2018

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The fertility of men with neurofibromatosis 1 (NF1) is reduced. Despite this observation, gonadal function has not been examined in patients with NF1. In order to assess the role of reduced neurofibromin in the testes, we examined testicular morphology and function in an Nf1+/- mouse model. We found that although Nf1+/- male mice are able to reproduce, they have significantly fewer pups per litter than Nf1+/+ control males. Reduced fertility in Nf1+/- male mice is associated with disorganization of the seminiferous epithelium, with exfoliation of germ cells and immature spermatids into the tubule lumen. Morphometric analysis shows that these alterations are associated with decreased Leydig cell numbers and increased spermatid cell numbers. We hypothesized that hyper-activation of Ras in Nf1+/- males affects ectoplasmic specialization, a Sertoli-spermatid adherens junction involved in spermiation. Consistent with this idea, we found increased expression of phosphorylated ERK, a downstream effector of Ras that has been shown to alter ectoplasmic specialization, in Nf1+/- males in comparison to control Nf1+/+ littermates. These data demonstrate that neurofibromin haploinsufficiency impairs spermatogenesis and fertility in a mouse model of NF1.

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Relative fertility and mutation rate in neurofibromatosis

Cited by 12 publications

References 1 publication

Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Neuropsychological Function in Adults With Von Recklinghausen's Neurofibromatosis

Neurofibromin haploinsufficiency results in altered spermatogenesis in a mouse model of neurofibromatosis type 1

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