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5q11.2 deletion syndrome revisited-Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome

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Microdeletions at 5q11.2 are rare. Subjects show a phenotypic spectrum that overlaps CHARGE syndrome and 22q11.2 deletion syndrome. A growing number of subjects present with learning difficulty and/or intellectual disability, immune deficiency, congenital heart malformation, and dysmorphism. DHX29 and IL6ST have been proposed as candidate genes for the development of the major clinical manifestations. We present a new case and narrow down the shortest region of overlap to evaluate possible candidate genes. Our case does not present developmental delay or immune deficiency indicating a reduced penetrance for some of the main clinical manifestations. The shortest region of overlap between subjects with deletions at 5q11.2 is approximately 450 kb (position 54.3-54.7 Mb). The narrowed region comprises 10 protein coding genes, including DHX29. DHX29 is a strong candidate gene for the main features of 5q11.2-microdeletion syndrome; however, our findings suggest a joined impact of several genes as the cause of the syndrome.

Original languageEnglish
JournalAmerican Journal of Medical Genetics. Part A
Volume185
Issue number12
Pages (from-to)3844-3850
Number of pages7
ISSN1552-4825
DOIs
Publication statusPublished - Dec 2021

Bibliographical note

© 2021 Wiley Periodicals LLC.

    Research areas

  • 5q11.2 microdeletion syndrome, developmental delay, DHX29, immunodeficiency, shortest region of overlap

ID: 67849997