Microcephaly

• 

  Subject Areas on Research

  • A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. 
  • A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. 
  • A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans. 
  • Bilateral Proliferative Retinopathy Associated With Hoyeraal-Hreidarsson Syndrome, a Severe Form of Dyskeratosis Congenita. 
  • Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature. 
  • De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. 
  • Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy. 
  • Detection and Prevention of Perinatal Infection: Cytomegalovirus and Zika Virus. 
  • Diabetes mellitus and profound insulin resistance in Johanson-Blizzard syndrome. 
  • Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes. 
  • Dubowitz syndrome: a defect in the cholesterol biosynthetic pathway? 
  • Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 
  • Head growth and developmental outcome in very low-birth-weight infants. 
  • Identification of cis-suppression of human disease mutations by comparative genomics. 
  • KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. 
  • Mfsd2a is a transporter for the essential omega-3 fatty acid docosahexaenoic acid. 
  • Microcephaly, hypergonadotropic hypogonadism, short stature, and minor anomalies: a new syndrome. 
  • Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. 
  • Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. 
  • Novel CASK mutations in cases with syndromic microcephaly. 
  • Partial duplication of 4q12q13 leads to a mild phenotype. 
  • Prenatal genetic diagnosis of Neu-Laxova syndrome. 
  • RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes. 
  • Rbm8a haploinsufficiency disrupts embryonic cortical development resulting in microcephaly. 
  • SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant. 
  • Seckel syndrome and moyamoya. 
  • The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs. 
  • The exon junction complex component Magoh controls brain size by regulating neural stem cell division. 
  • The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes. 
  • ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss. 
  • Zika virus exposure in pregnancy and its association with newborn visual anomalies and hearing loss. 
  • Zika virus infection and microcephaly: Evidence regarding geospatial associations. 
• 

  Keywords of People

  • Silver, Debra Lynn, Associate Professor of Molecular Genetics and Microbiology, Duke Science & Society