title: 8q13.1-q13.2 deletion associated with inferior cerebellar vermian hypoplasia and digital anomalies: a new syndrome?
abstract: BACKGROUND
  Cerebellar vermis hypoplasia has been associated with a large number of chromosomal abnormalities and metabolic disorders, with few candidate genes clearly linked to isolated cerebellar vermis hypoplasia.
  
  
  METHODS
  We describe on a 12-year-old boy with inferior vermian hypoplasia associated with a novel de novo microdeletion. He presented with intellectual, speech and language impairment, unilateral facial nerve weakness, marked constipation, and bilateral hand and foot anomalies that were not consistent with any previously described syndrome. His hand features were digital reductions similar to those seen in 4q34 deletion syndrome, known as the "tale of the nail" sign. Cranial magnetic resonance imaging demonstrated isolated inferior cerebellar vermis hypoplasia.
  
  
  RESULTS
  A de novo 1.4 Mb interstitial deletion was identified at 8q13.1-q13.2 on chromosomal microarray. This copy number variant involves 18 human genome reference sequence genes, with 11 Mendelian Inheritance in Man genes. Homozygous mutations in one of these genes (CSPP1) has recently been recently described as causing Joubert syndrome.
  
  
  CONCLUSIONS
  We propose that the constellation of clinical features in this child represents a novel microdeletion syndrome and hypothesize that CSPP1 or other genes within the deleted region contribute to the cerebellar development.
authors.affiliation: South Australian Clinical Genetics Service, SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia; School of Medicine, University of Adelaide, North Adelaide, South Australia, Australia.
authors.forename: Dylan
authors.initials: D
authors.lastname: Mordaunt
authors.affiliation: Department of Genetics and Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, South Australia, Australia; Department of Clinical Science, University of Bergen, Bergen, Norway.
authors.forename: Bergithe E
authors.initials: BE
authors.lastname: Oftedal
authors.affiliation: South Australian Clinical Genetics Service, SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, South Australia, Australia.
authors.forename: Alisha
authors.initials: A
authors.lastname: McLauchlan
authors.affiliation: South Australian Clinical Genetics Service, SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.
authors.forename: Danika
authors.initials: D
authors.lastname: Coates
authors.affiliation: Department of Genetics and Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, South Australia, Australia.
authors.forename: Wendy
authors.initials: W
authors.lastname: Waters
authors.affiliation: Department of Genetics and Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, South Australia, Australia; School of Medicine, University of Adelaide, North Adelaide, South Australia, Australia.
authors.forename: Hamish
authors.initials: H
authors.lastname: Scott
authors.affiliation: South Australian Clinical Genetics Service, SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia; School of Medicine, University of Adelaide, North Adelaide, South Australia, Australia. Electronic address: christopher.barnett@health.sa.gov.au.
authors.forename: Christopher
authors.initials: C
authors.lastname: Barnett
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D018797:Cell Cycle Proteins / Q000235:genetics; D002526:Cerebellar Diseases / Q000235:genetics / Q000503:physiopathology*; D065814:Cerebellar Vermis / Q000002:abnormalities*; D002531:Cerebellum / Q000002:abnormalities; D002648:Child; D025063:Chromosome Disorders; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D005124:Eye Abnormalities / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000235:genetics / Q000503:physiopathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics; D009006:Monosomy / Q000235:genetics / Q000503:physiopathology*; D012160:Retina / Q000002:abnormalities* / Q000503:physiopathology
chemical_list: C514207:CSPP1 protein, human; D018797:Cell Cycle Proteins; D008869:Microtubule-Associated Proteins
keywords: 8q13.1-q13.2 deletion; CSPP1; cerebellar development; inferior cerebellar vermian hypoplasia