Ask about this productRelated genes to: PAFAH1B1 Blocking Peptide
- Gene:
- PAFAH1B1 NIH gene
- Name:
- platelet activating factor acetylhydrolase 1b regulatory subunit 1
- Previous symbol:
- MDCR, MDS
- Synonyms:
- LIS1, PAFAH, NudF
- Chromosome:
- 17p13.3
- Locus Type:
- gene with protein product
- Date approved:
- 1998-04-03
- Date modifiied:
- 2016-06-13
Related products to: PAFAH1B1 Blocking Peptide
Related articles to: PAFAH1B1 Blocking Peptide
- Classic lissencephaly is a malformation of cortical development that includes agyria and pachygyria. The major clinical symptoms are developmental impairment, muscular hypotonia, and drug-resistant epilepsy. The severity of the clinical phenotype depends on the associated gene and mutation. This study aimed to systematically investigate the genotype-specific course of the disease including neurodevelopmental outcome, medical complications, use of non-pharmacological supportive therapies, and its impact on the quality of life of the affected families. - Source: PubMed
Publication date: 2026/05/23
Proepper Christiane RSchwarz Lisa-MariaSchuetz Sofia Mvon Au KatjaBast ThomasBeaud NathalieBorggraefe IngoBosch FriedrichBusse MelanieChung JenaDebus OtfriedDiepold KatharinaFries Thomasvon Gersdorff GeroHaeussler MartinHahn AndreasHartlieb TillHeiming RalfHerkenrath PeterKluger GerhardKreth Jonas HKurlemann GerhardMoeller PeterMorris-Rosendahl Deborah JPanzer AxelPhilippi HeikeRuegner SophiaToepfer CarolinaVieker SilviaWiemer-Kruel AdelheidWinter AnikaSchuierer GerhardHehr UteGeis Tobias - Mutations in human LIS1 cause lissencephaly, a severe developmental brain malformation. Although most studies focus on development, LIS1 is also expressed in adult mouse tissues. We previously induced LIS1 knock-out (iKO) in adult mice using a Cre-Lox approach with an actin promoter driving CreERT2 expression. This proved to be rapidly lethal, with evidence pointing toward nervous system dysfunction. CreERT2 activity was observed in astrocytes, brainstem and spinal motor neurons, and axons and Schwann cells in the sciatic and phrenic nerves, suggesting dysfunctional cardiorespiratory and motor circuits. However, it is unclear how LIS1 knock-out in these different cell types contributes to the lethal phenotype. We now report that LIS1 depletion from astrocytes is not lethal to mice (male or female), although glial fibrillary protein (GFAP) expression is increased in all LIS1-depleted astrocytes. In contrast, LIS1 depletion from projection neurons causes motor deficits and rapid lethality in both males and females. This is accompanied by progressive, widespread axonal degeneration along the entire length of both motor and sensory axons. Interestingly, sensory neurons harvested from iKO mice initially extend axons in culture but soon develop axonal swellings and fragmentation, indicating axonal degeneration. LIS1 is a prominent regulator of cytoplasmic dynein 1 (dynein, hereafter), a microtubule motor whose disruption can cause both cortical malformations and later-onset neurodegenerative diseases, such as Charcot-Marie-Tooth disease. Our results raise the possibility that LIS1 depletion, through disruption of dynein function in mature axons, may lead to Wallerian-like axon degeneration without traumatic nerve injury. - Source: PubMed
Publication date: 2026/05/20
Matoo SamanehVentrone Anne MPatel ShreenaOtterson Jack KNoonan SeanLeever NoahHines Timothy JKalinski Ashley LSmith Deanna S - Miller-Dieker Syndrome (MDS) is a rare neurodevelopmental disorder caused by a deletion on chromosome 17p13.3, notably affecting the (LIS1) gene. This genetic alteration disrupts neuronal migration, resulting in type I lissencephaly and profound neurocognitive impairments. To critically analyze the genetic basis and neurocognitive profile associated with MDS and examine its clinical relevance through a systematic literature review. A descriptive and retrospective literature review was conducted following PRISMA guidelines. Searches were conducted across major scientific databases using terms using terms such as "Miller-DiekerSyndrome," "neuronal migration disorder," "genetic deletion 17p13.3," and "neurocognition." Studies reviewed consistently associate the 17p13.3 deletion with pathogenic variants in , and . These genes are critical for neuronal migration and brain cortical structure. Although the clinical profiles were not uniformly described, the literature supports links between these genetic pathogenic variants and developmental delay, epilepsy, and intellectual disability. Neuroimaging is a fundamental tool for the diagnosis and structural characterization of MDS. However, this review primarily focused on the genetic and neurocognitive dimensions. While some studies mentioned imaging findings, detailed neuroanatomical data were not systematically or consistently reported across the literature, which limited their inclusion in the comparative analysis presented in this manuscript. MDS exemplifies a severe genetic disorder of neuronal migration. Genetic and neurocognitive evaluation is key for early diagnosis and management. Future research should focus on integrative neurodevelopmental models and potential molecular therapies. - Source: PubMed
Publication date: 2026/04/14
Prada Rodriguez Eduin AlexanderRomero Briceño Albeiro - Malignant aneurysmal bone cyst is not a well described concept. We present a case of a morphologically malignant bone tumour, interpreted as a malignant aneurysmal bone cyst with areas of characteristic morphology, a myofibroblastic phenotype, and a proven PAFAH1B1:USP6 fusion. The radiologic, morphologic and molecular features of this unusual case are discussed, along with the spectrum of atypical/malignant USP6 translocated tumours. - Source: PubMed
Publication date: 2026/03/25
Bennett JamesBonar FionaBrown WendyDorwal PranavBarton NarelleLowe MartinCheah Alison L - Lissencephaly (LIS) is a spectrum of cortical malformations including agyria, pachygyria and subcortical band heterotopia, which arises from aberrant neuronal migration and is associated with severe neurodevelopmental impairments. Despite advancements in prenatal imaging, diagnosing LIS remains challenging. Genetic factors play a crucial role in LIS, involving multiple genes and signalling pathways, yet research on prenatal diagnosis and the genetic basis is still limited. This study aimed to assess the diagnostic yield of whole exome sequencing (WES) in LIS and to examine genotype-phenotype correlations, addressing the challenge of 'phenotype lag' in prenatal LIS diagnosis. This study included 20 fetuses with LIS suggested by prenatal imaging and 20 children with LIS diagnosed after birth; all cases were diagnosed by magnetic resonance imaging and underwent genetic testing. In addition, a literature review was conducted and 80 studies were included, of which 1 was used to compare detection efficacy and 79 studies totalling 210 cases were used to assess genotype-phenotype correlation. In the prenatal cohort, 85.0% (17/20) of cases exhibited concurrent anomalies, predominantly ventriculomegaly (50.0%) and microcephaly (25.0%). In the postnatal cohort, the most common phenotypes were epilepsy (80.0%, 16/20) and global developmental delay (65.0%, 13/20), with half of the cases (10/20) showing no abnormalities in the prenatal period. The diagnostic yields were 55.0% (11/20) and 65.0% (13/20), respectively, with point mutations or 17p13.3 microdeletions being the predominant genetic variant in both cohorts, accounting for 31.3% (prenatal) and 25.5% (postnatal) of cases, respectively. and were reported to be associated with LIS for the first time in this study. Literature synthesis revealed an overall diagnostic yield of 79.04%, dominated by (26.3%), (11.9%), and (10.2%). By reviewing the prenatal images, up to 48.05% (74/154) of the cases had no specific findings in the prenatal period, and the most common presentations were ventriculomegaly/hydrocephalus (52.63%) and head circumference anomalies (29.82%). This study highlights the significant genetic heterogeneity, phenotypic complexity and diagnostic challenges of LIS by integrating data from our cohort and the published literature. We developed a comprehensive genetic aetiology classification framework for LIS and identified novel associations with non-canonical genes such as and . With a high molecular diagnostic yield of 79.04%, we recommend WES as the first-line genetic test. Furthermore, the establishment of an integrated prenatal imaging-molecular diagnostic system, along with a postnatal multidisciplinary model, is crucial for improving prognosis assessment, clinical decision-making and genetic counselling. - Source: PubMed
Publication date: 2026/03/06
Huang RuibinFu FangZhang NaZhou HangMei ShanshanHan JinDeng QiongLiu HongshengZhang YonglingYu QiuxiaPan MinLi FuchengLu JianqinMa ChunlingGuo FeiChen HuanyiLiu LiyuanZhao XinyiTan XinyueLi DongzhiLi RuLiao Can