Utilidad del exoma en el estudio de la paraparesia espástica y la atrofia cerebelosa: mutación de novo en el gen KIF1A, una nueva esperanza pronóstica

Valle, Sara; Gil, Bracho; León, María Soraya Ramiro; Menéndez, B. Martínez

doi:10.1016/j.nrl.2018.07.001

Cited by 3 publications

(2 citation statements)

References 13 publications

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“…Furthermore, urological abnormalities other than incontinence are observed across three patients: neurogenic bladder/bowel, double collecting system, and hydronephrosis of unspecified etiology, which can be caused by neurogenic bladder or double collecting system. While neurogenic bladder has been previously reported (Okamoto et al, 2014;Urtiaga Valle et al, 2020), a double collecting system is a novel phenotype. However, without resolving whether the hydronephrosis of unspecified etiology is caused by a double collecting system, we cannot rule out a double collecting system as an incidental finding.…”

Section: Discussionmentioning

confidence: 90%

Phenotypic expansion in KIF1A ‐related dominant disorders: A description of novel variants and review of published cases

et al. 2020

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KIF1A is a molecular motor for membrane-bound cargo important to the development and survival of sensory neurons. KIF1A dysfunction has been associated with several Mendelian disorders with a spectrum of overlapping phenotypes, ranging from spastic paraplegia to intellectual disability. We present a novel pathogenic inframe deletion in the KIF1A molecular motor domain inherited by two affected siblings from an unaffected mother with apparent germline mosaicism. We identified eight additional cases with heterozygous, pathogenic KIF1A variants ascertained from a local data lake. Our data provide evidence for the expansion of

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Section: Discussionmentioning

confidence: 90%

Phenotypic expansion in KIF1A ‐related dominant disorders: A description of novel variants and review of published cases

et al. 2020

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“…Our 4 sporadic cases may add to this variability. mutations acquired de novo [6,9,11,24,[26][27][28][29][30][31][32][33] several groups of sporadic cases were reported: 4 Dutch patients [25], 6 patients age 1.5-16 years from USA [7], 5 cases among 62 unrelated patients with cerebral atrophy of unestablished nature [9]. In addition, one of the first cohorts with de novo mutations in KIF1A was a representative international group (Canada, USA, Netherlands and Finland): 14 patients (monozygotic twin pair among them) age 2.5-24 years, all had de novo mutations in KIF1A [8].…”

Section: Discussionmentioning

confidence: 99%

KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families

et al. 2020

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Background: Spastic paraplegia type 30 (SPG30) caused by KIF1A mutations was first reported in 2011 and was initially considered a very rare autosomal recessive (AR) form. In the last years, thanks to the development of massive parallel sequencing, SPG30 proved to be a rather common autosomal dominant (AD) form of familial or sporadic spastic paraplegia (SPG),, with a wide range of phenotypes: pure and complicated. The aim of our study is to detect AD SPG30 cases and to examine their molecular and clinical characteristics for the first time in the Russian population. Methods: Clinical, genealogical and molecular methods were used. Molecular methods included massive parallel sequencing (MPS) of custom panel 'spastic paraplegias' with 62 target genes complemented by familial Sanger sequencing. One case was detected by the whole-exome sequencing. Results: AD SPG30 was detected in 10 unrelated families, making it the 3rd (8.4%) most common SPG form in the cohort of 118 families. No AR SPG30 cases were detected. In total, 9 heterozygous KIF1A mutations were detected, with 4 novel and 5 known mutations. All the mutations were located within KIF1A motor domain. Six cases had pure phenotypes, of which 5 were familial, where 2 familial cases demonstrated incomplete penetrance, early onset and slow relatively benign SPG course. All 4 complicated cases were caused by novel mutations without familial history. The phenotypes varied from severe in two patients (e.g. lack of walking, pronounced mental retardation) to relatively mild non-disabling symptoms in two others. Conclusion: AD SPG30 is one of the most common forms of SPG in Russia, the disorder has pronounced clinical variability while pure familial cases represent a significant part.

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Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review

et al. 2021

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Utilidad del exoma en el estudio de la paraparesia espástica y la atrofia cerebelosa: mutación de novo en el gen KIF1A, una nueva esperanza pronóstica

Cited by 3 publications

References 13 publications

Phenotypic expansion in KIF1A ‐related dominant disorders: A description of novel variants and review of published cases

Phenotypic expansion in KIF1A ‐related dominant disorders: A description of novel variants and review of published cases

KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families

Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review

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