14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly

American Journal of Medical Genetics. Part a
Maria PiccioneGiovanni Corsello

Abstract

Interstitial deletions involving 14q13.1q21.1 are rare. In the literature at least 10 cases involving this region have been described and all patients showed a phenotype within the holoprosencephaly (HPE) spectrum. Previous studies suggested the HPE8 region as a candidate locus for HPE at 14q13. We report an adolescent with a 14q13.1q21.1 deletion encompassing the HPE8 region associated with intellectual disability (ID), bilateral microphthalmia, and coloboma, without cerebral anomalies typical of HPE. Except for ocular defects (i.e., microphthalmia, coloboma) consistent with HPE-type anomalies, the minor facial dysmorphia was not suggestive for HPE and the absence of cerebral anomalies should rule out this diagnosis. The deletion of the potential HPE candidate genes NPAS3, EAPP, SNX6, and TULIP1, raises doubts about their pathologic role in determining HPE. It is likely that deletions of HPE genes are not sufficient to cause HPE, and that multiple genetic, chromosomal, and environmental factors interact to determine the variable clinical expression of HPE. This is the first case of a 14q deletion encompassing the HPE8 locus with the only features consistent with HPE-type anomalies affecting the ocular system (i.e., microphthal...Continue Reading

References

Oct 6, 1999·Current Opinion in Genetics & Development·S T Crews, C M Fan
Jun 24, 2000·Science·J A GarciaS L McKnight
May 15, 2001·The Medical Clinics of North America·D C GoffO Freudenreich
May 15, 2003·Journal of Medical Genetics·D KamnasaranD W Cox
Feb 18, 2005·Molecular Biology of the Cell·Michael NovyHans Rotheneder
Jul 18, 2006·Nature Genetics·Kouichi OzakiToshihiro Tanaka
Nov 6, 2007·Nature·Barbara A WeirMatthew Meyerson
May 7, 2009·Proceedings of the National Academy of Sciences of the United States of America·Gongshe HanTeresa M Dunn
Sep 8, 2009·Genomics·Keiko ShimojimaToshiyuki Yamamoto

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Citations

Jun 6, 2015·Birth Defects Research. Part C, Embryo Today : Reviews·Linda M Reis, Elena V Semina
May 6, 2016·American Journal of Medical Genetics. Part a·Mattia GentileNicola Laforgia
Jul 31, 2020·Clinical Genetics·Linda M ReisElena V Semina
Dec 5, 2018·BMC Molecular Biology·Leiah M Luoma, Fred B Berry

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