Identification of a novel PAFAH1B1 missense mutation as a cause of mild lissencephaly with basal ganglia calcification

  title={Identification of a novel PAFAH1B1 missense mutation as a cause of mild lissencephaly with basal ganglia calcification},
  author={Chang-he Shi and Shuo Zhang and Zhi-hua Yang and Yu-tao Liu and Yu-sheng Li and Zhuo Li and Zheng-wei Hu and Yu-ming Xu},
  journal={Brain and Development},
PURPOSE To investigate the genetic and clinical features of a Chinese family exhibiting an autosomal dominant inheritance pattern of lissencephaly. METHODS Clinical examinations and cranial imaging studies were performed for all members of the family (two unaffected members and three surviving members from a total of four affected members). In addition, whole-exome sequencing analysis was performed for DNA from an affected patient to scan for candidate mutations, followed by Sanger sequencing… Expand
1 Citations
A De novo Loss-of-Function Mutation in PAFAH1B1 Identified in a Single Case with Agyria–Pachygyria Complex
This is the first case with agyria–pachygyria complex due to a nonsense mutation in the Chinese population identified by a trio WES approach and predicted to be a null loss-of-function allele. Expand


Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification
It is demonstrated that mutations in SLC20A2 are a major cause of familial IBGC, and non-perfect segregation patterns of predicted deleterious variants highlight the challenges of phenotypic assessment in this condition with highly variable clinical presentation. Expand
Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1)
Classical lissencephaly (LIS) and subcortical band heterotopia (SBH) are related cortical malformations secondary to abnormal migration of neurons during early brain development. Approximately 60% ofExpand
CHCHD2 gene mutations in familial and sporadic Parkinson's disease
The results confirm that ADPD can be caused by CHCHD2 mutations and show that the Pro2Leu variant in CHCHd2 may be a risk factor for sporadic PD in Chinese populations. Expand
LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ
It is suggested that the few patients found thus far with missense mutations of LIS1 results from an underascertainment of patients with more subtle malformations and that abnormalities of the L IS1 gene may account for a greater spectrum of neurologic problems in childhood than has been appreciated. Expand
The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.
Using a spectrum of ILS patients, it is confirmed the importance of specific WD40 repeats and a putative microtubule-binding domain for PAFAH1B1 function and hypothesize that the greater lissencephaly severity seen in Miller-Dieker syndrome may be secondary to the loss of another cortical development gene in the deletion of 17p13.3. Expand
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.
The distinct LIS patterns suggest that LIS1 and XLIS may be part of overlapping, but distinct, signaling pathways that promote neuronal migration. Expand
Topical Review: Genotype-Phenotype Correlation in Lissencephaly and Subcortical Band Heterotopia: The Key Questions Answered
  • R. Leventer
  • Biology, Medicine
  • Journal of child neurology
  • 2005
This review answers some of the key questions regarding the genotype-phenotype correlation for lissencephaly and subcortical band heterotopia. Expand
Isolation of a Miller–Dicker lissencephaly gene containing G protein β-subunit-like repeats
The cloning of a gene (LIS-1, lissencephaly-1) in 17p13.3 that is deleted in Miller–Dieker patients is reported, identifying LIS-l as the disease gene and the deduced amino-acid sequence shows significant homology to β-subunits of heterotrimeric G proteins, suggesting that it could possibly be involved in a signal transduction pathway crucial for cerebral development. Expand
Targeted mutagenesis of Lis1 disrupts cortical development and LIS1 homodimerization
The deletion of the first coding exon from the mouse Lis1 gene resulted in a shorter protein (sLIS1) that initiates from the second methionine, a unique situation because most LIS1 mutations result in a null allele, and allows us to determine a hierarchy of functions that are sensitive to LIS 1 dosage, thus promoting the understanding of the role of LIS2 in the developing cortex. Expand
Lissencephaly and other malformations of cortical development: 1995 update.
The different types of neuronal migration disorders are described and illustrated and the genes responsible for several of the lissencephaly syndromes have been mapped. Expand