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  Comprehensive genotype‐phenotype correlation in AP‐4 deficiency syndrome; Adding data from a large cohort of Iranian patients

Beheshtian, M., Akhtarkhavari, T., Mehvari, S., Mohseni, M., Fattahi, Z., Abedini, S. S., et al. (2020). Comprehensive genotype‐phenotype correlation in AP‐4 deficiency syndrome; Adding data from a large cohort of Iranian patients. Clinical Genetics: an international journal of genetics in medicine, 2020, 1-6. doi:10.1111/cge.13845.

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 Creators:
Beheshtian, Maryam , Author
Akhtarkhavari, Tara , Author
Mehvari, Sepideh , Author
Mohseni, Marzieh , Author
Fattahi, Zohreh , Author
Abedini, Seyedeh Sedigheh , Author
Arzhangi , Sanaz , Author
Fadaee, Mahsa , Author
Jamali , Payman , Author
Najafipour, Reza , Author
Kalscheuer, Vera M.1, Author              
Hu, Hao2, Author
Ropers, Hans-Hilger2, Author              
Najmabadi, Hossein , Author
Kahrizi, Kimia , Author
Affiliations:
1Chromosome Rearrangements and Disease (Vera Kalscheuer), Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_2385702              
2Emeritus Group of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_2385695              

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Free keywords: AP-4 deficiency syndrome, consanguinity, genotype-phenotype correlation, intellectual disability, Iranian families
 Abstract: Mutations in adaptor protein complex‐4 (AP‐4) genes have first been identified in 2009, causing a phenotype termed as AP‐4 deficiency syndrome. Since then several patients with overlapping phenotypes, comprised of intellectual disability (ID) and spastic tetraplegia have been reported. To delineate the genotype‐phenotype correlation of the AP‐4 deficiency syndrome, we add the data from 30 affected individuals from 12 out of 640 Iranian families with ID in whom we detected disease‐causing variants in AP‐4 complex subunits, using next‐generation sequencing. Furthermore, by comparing genotype‐phenotype findings of those affected individuals with previously reported patients, we further refine the genotype‐phenotype correlation in this syndrome. The most frequent reported clinical findings in the 101 cases consist of ID and/or global developmental delay (97%), speech disorders (92.1%), inability to walk (90.1%), spasticity (77.2%), and microcephaly (75.2%). Spastic tetraplegia has been reported in 72.3% of the investigated patients. The major brain imaging findings are abnormal corpus callosum morphology (63.4%) followed by ventriculomegaly (44.5%). Our result might suggest the AP‐4 deficiency syndrome as a major differential diagnostic for unknown hereditary neurodegenerative disorders.

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Language(s): eng - English
 Dates: 2020-09-072020-09-14
 Publication Status: Published online
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: DOI: 10.1111/cge.13845
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Title: Clinical Genetics: an international journal of genetics in medicine
  Other : Clin. Genet.
Source Genre: Journal
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Publ. Info: Copenhagen : Munksgaard.
Pages: - Volume / Issue: 2020 Sequence Number: - Start / End Page: 1 - 6 Identifier: ISSN: 0009-9163
CoNE: https://pure.mpg.de/cone/journals/resource/954925391292