CANPMR syndrome and chromosome 1p32-p31 deletion syndrome coexist in two related individuals affected by simultaneous haplo-insufficiency of CAMTA1 and NIFA genes

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• 作者：Emanuele G. Coci ; Udo Koehler ; Thomas Liehr ; Armin Stelzner…
• 关键词：NFIA ; Chromosome 1p32 ; p31 deletion syndrome ; CAMTA1 ; CANPMR syndrome ; Paracentric inversion on short arm of chromosome 1
• 刊名：Molecular Cytogenetics
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：9
• 期：1
• 全文大小：1,935 KB
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• 作者单位：Emanuele G. Coci (1)
  Udo Koehler (2)
  Thomas Liehr (3)
  Armin Stelzner (1)
  Christian Fink (4)
  Hendrik Langen (1)
  Joachim Riedel (1)
  
  1. Center of Social Pediatrics and Pediatric Neurology, General Hospital of Celle, 29221, Celle, Germany
  2. Medizinisch Genetisches Zentrum, 80335, Munich, Germany
  3. Institute of Human Genetics, Friedrich Schiller University, Jena University Hospital, 07743, Jena, Germany
  4. Department of Radiology, General Hospital of Celle, 29223, Celle, Germany
  
• 刊物主题：Cytogenetics; Molecular Medicine;
• 出版者：BioMed Central
• ISSN：1755-8166

文摘

Background Non-progressive cerebellar ataxia with mental retardation (CANPMR, OMIM 614756) and chromosome 1p32-p31 deletion syndrome (OMIM 613735) are two very rare inherited disorders, which are caused by mono-allelic deficiency (haplo-insufficiency) of calmodulin-binding transcription activator 1 (CAMTA1) and, respectively, nuclear factor 1 A (NFIA) genes. The yet reported patients affected by mono-allelic CAMTA1 dysfunction presented with neonatal hypotonia, delayed and ataxic gait, cerebellar atrophy, psychological delay and speech impairment, while individuals carrying a disrupted NFIA allele suffered from agenesis/hypoplasia of the corpus callosum, ventriculomegaly, developmental delay and urinary tract abnormalities. Both disorders were not seen in one patient together before.