Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy

Primary microcephaly (PM) is defined as a significant reduction in occipitofrontal circumference (OFC) of prenatal onset. Clinical and genetic heterogeneity of PM represents a diagnostic challenge.

[1]  N. Tommerup,et al.  RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis , 2020, Nature Communications.

[2]  Autosomal recessive primary microcephaly , 2020, Definitions.

[3]  P. Gressens,et al.  CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects , 2020, Journal of Medical Genetics.

[4]  M. Rooman,et al.  Digenic inheritance of human primary microcephaly delineates centrosomal and non‐centrosomal pathways , 2019, Human mutation.

[5]  J. Bolaños,et al.  Does APC/CCDH1 control the human brain size? , 2019, Journal of neurochemistry.

[6]  Á. Almeida,et al.  A novel human Cdh1 mutation impairs anaphase promoting complex/cyclosome activity resulting in microcephaly, psychomotor retardation, and epilepsy , 2019, Journal of neurochemistry.

[7]  M. Wlodarski,et al.  HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans. , 2019, American journal of human genetics.

[8]  Weibing Qin,et al.  DNAH2 is a novel candidate gene associated with multiple morphological abnormalities of the sperm flagella , 2019, Clinical genetics.

[9]  T. Kalmár,et al.  A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature , 2019, Journal of Applied Genetics.

[10]  Anselm H. C. Horn,et al.  Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly , 2019, Genetics in Medicine.

[11]  Ryan L. Collins,et al.  The mutational constraint spectrum quantified from variation in 141,456 humans , 2020, Nature.

[12]  S. Seneca,et al.  Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations. , 2018, European journal of medical genetics.

[13]  N. Boddaert,et al.  Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction. , 2018, European journal of medical genetics.

[14]  A. Ekici,et al.  The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy , 2018, bioRxiv.

[15]  C. Walsh,et al.  Genomic and phenotypic delineation of congenital microcephaly , 2018, Genetics in Medicine.

[16]  J. Flowers,et al.  Origins and geographic diversification of African rice (Oryza glaberrima) , 2018, bioRxiv.

[17]  Res,et al.  Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation , 2018, Brain sciences.

[18]  R. Borgatti,et al.  Tubulin genes and malformations of cortical development. , 2018, European journal of medical genetics.

[19]  M. Abramowicz,et al.  Phenotypes in siblings with homozygous mutations of TRAPPC9 and/or MCPH1 support a bifunctional model of MCPH1 , 2018, Molecular genetics & genomic medicine.

[20]  K. Devriendt,et al.  Autosomal recessive primary microcephaly due to ASPM mutations: An update , 2018, Human mutation.

[21]  V. Antona,et al.  A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability , 2018, Brain and Development.

[22]  M. Abramowicz,et al.  The genetics of congenitally small brains. , 2017, Seminars in cell & developmental biology.

[23]  M. Abramowicz,et al.  Severe congenital microcephaly with AP4M1 mutation, a case report , 2017, BMC Medical Genetics.

[24]  A. Kaindl,et al.  Autosomal Recessive Primary Microcephaly (MCPH): An Update , 2017, Neuropediatrics.

[25]  S. Doxsey,et al.  The Centrosome, a Multitalented Renaissance Organelle. , 2016, Cold Spring Harbor perspectives in biology.

[26]  C. Santoro,et al.  Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis , 2016, Clinical genetics.

[27]  N. Katsanis,et al.  The Genetic Basis of Hydrocephalus. , 2016, Annual review of neuroscience.

[28]  F. Alkuraya,et al.  RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans. , 2015, American journal of human genetics.

[29]  M. Swertz,et al.  Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly , 2015, BMC Medical Genomics.

[30]  James Y. Zou.  Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.

[31]  Teruhiko Yoshida,et al.  Alterations of the spindle checkpoint pathway in clinicopathologically aggressive CpG island methylator phenotype clear cell renal cell carcinomas , 2015, International journal of cancer.

[32]  Yoko Arai,et al.  MCPH1: a window into brain development and evolution , 2015, Front. Cell. Neurosci..

[33]  Bale,et al.  Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.

[34]  R. Basto,et al.  Microcephaly , 2014, Current Biology.

[35]  D. del Gaudio,et al.  Analysis of ASPM in an ethnically diverse cohort of 400 patient samples: perspectives of the molecular diagnostic laboratory , 2014, Clinical genetics.

[36]  J. Shendure,et al.  A general framework for estimating the relative pathogenicity of human genetic variants , 2014, Nature Genetics.

[37]  P. Gressens,et al.  Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders , 2013 .

[38]  A. Hattersley,et al.  tRNA Methyltransferase Homolog Gene TRMT10A Mutation in Young Onset Diabetes and Primary Microcephaly in Humans , 2013, PLoS genetics.

[39]  N. Tommerup,et al.  Genetic heterogeneity in Pakistani microcephaly families , 2013, Clinical genetics.

[40]  Nelle Lambert,et al.  Kinetochore KMN network gene CASC5 mutated in primary microcephaly. , 2012, Human molecular genetics.

[41]  V. Bhat,et al.  Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations , 2011, Clinical genetics.

[42]  E. Boerwinkle,et al.  dbNSFP: A Lightweight Database of Human Nonsynonymous SNPs and Their Functional Predictions , 2011, Human mutation.

[43]  M. DePristo,et al.  A framework for variation discovery and genotyping using next-generation DNA sequencing data , 2011, Nature Genetics.

[44]  C. Woods,et al.  WDR62 is associated with the spindle pole and is mutated in human microcephaly , 2010, Nature Genetics.

[45]  H. Ropers,et al.  A clinical and molecular genetic study of 112 Iranian families with primary microcephaly , 2010, Journal of Medical Genetics.

[46]  P. Awadalla,et al.  Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. , 2010, American journal of human genetics.

[47]  J. S. Collins,et al.  United States head circumference growth reference charts: birth to 21 years. , 2010, The Journal of pediatrics.

[48]  C. Walsh,et al.  Mutations in PNKP cause microcephaly, seizures and defects in DNA repair , 2010, Nature Genetics.

[49]  I Scala,et al.  Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations , 2009, Neurology.

[50]  C. Baker,et al.  Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. , 2008, The New England journal of medicine.

[51]  Philippe David,et al.  Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero‐posterior gradient pre‐ and post‐natally , 2008, American journal of medical genetics. Part A.

[52]  L. Regan,et al.  Structure and function of KH domains , 2008, The FEBS journal.

[53]  M. Abramowicz,et al.  Novel mutations in prenatal diagnosis of primary microcephaly , 2006, Prenatal diagnosis.

[54]  C. Woods,et al.  What primary microcephaly can tell us about brain growth. , 2006, Trends in molecular medicine.

[55]  J. Parma,et al.  Prenatal diagnosis of primary microcephaly in two consanguineous families by confrontation of morphometry with DNA data , 2006, Prenatal diagnosis.

[56]  T. Siddique,et al.  Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: novel sequence variants in ASPM gene , 2006, Neurogenetics.

[57]  C. Walsh,et al.  ASPM mutations identified in patients with primary microcephaly and seizures , 2005, Journal of Medical Genetics.

[58]  C. Walsh,et al.  Protein-truncating mutations in ASPM cause variable reduction in brain size. , 2003, American journal of human genetics.

[59]  C. Woods,et al.  Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation , 2002, Journal of medical genetics.

[60]  H. Okano,et al.  Expression of mouse igf2 mRNA‐binding protein 3 and its implications for the developing central nervous system , 2001, Journal of neuroscience research.

[61]  J. Fryns,et al.  Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32. , 2000, American journal of human genetics.

[62]  M. Abramowicz,et al.  Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15. , 1999, American journal of human genetics.

[63]  S. Amselem,et al.  Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment , 1997, FEBS letters.

[64]  A. Munnich,et al.  Refining the phenotype associated with CASC5 mutation , 2015, neurogenetics.