Manara - Qatar Research Repository
Browse
10.1002_mgg3.1086.pdf (927.4 kB)

Haploinsufficiency of the FOXA2 associated with a complex clinical phenotype

Download (927.4 kB)
Version 2 2023-03-19, 07:51
Version 1 2023-03-16, 06:24
journal contribution
revised on 2023-03-19, 07:34 and posted on 2023-03-19, 07:51 authored by Idris Mohammed, Sara Al‐Khawaga, David Bohanna, Abdusamea Shabani, Faiyaz Khan, Donald R. Love, Zafar Nawaz, Khalid Hussain

Background

There are few reports describing the proximal deletions of the short arm of chromosome 20, making it difficult to predict the likely consequences of these deletions. Most previously reported cases have described the association of 20p11.2 deletions with Alagille syndrome, while there are others that include phenotypes such as panhypopituitarism, craniofacial dysmorphism, polysplenia, autism, and Hirschsprung disease.

Methods

Molecular karyotyping, cytogenetics, and DNA sequencing were undertaken in a child to study the genetic basis of a complex phenotype consisting of craniofacial dysmorphism, ocular abnormalities, ectopic inguinal testes, polysplenia, growth hormone deficiency, central hypothyroidism, and gastrointestinal system anomalies.

Results

We report the smallest described de novo proximal 20p11.2 deletion, which deletes only the FOXA2 leading to the above complex phenotype.

Conclusions

Haploinsufficiency of the FOXA2 only gene is associated with a multisystem disorder.

Other Information

Published in: Molecular Genetics & Genomic Medicine
License: http://creativecommons.org/licenses/by/4.0/
See article on publisher's website: http://dx.doi.org/10.1002/mgg3.1086

History

Language

  • English

Publisher

Wiley

Publication Year

  • 2020

Institution affiliated with

  • Hamad Bin Khalifa University
  • Sidra Medical and Research Center

Usage metrics

    Manara - Qatar Research Repository

    Licence

    Exports

    RefWorks
    BibTeX
    Ref. manager
    Endnote
    DataCite
    NLM
    DC