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2023 ACMG Annual Clinical Genetics Meeting Digital ...
A 3.9 Mb Triplication Within 11p14.1p13 Containing ...
A 3.9 Mb Triplication Within 11p14.1p13 Containing
ELP4
and
PAX6
In a Patient With Congenital Nystagmus and Mild Speech Delay
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Pdf Summary
A patient with congenital nystagmus and mild speech delay was found to have a 3.9 Mb triplication of 11p14.1p13 containing the genes ELP4 and PAX6. Truncating variants in these genes are associated with aniridia, and larger deletions encompassing these genes may have additional features. However, gain of this region containing both genes is rarely reported.<br /><br />The patient is a healthy 2-year-old male who exhibited nystagmus and severe myopia. He also had reduced retinal pigmentation and other eye abnormalities. Mild language delay was noted during developmental evaluation. The patient's father has juvenile onset high myopia, and his sister has exotropia. There are no other relatives with nystagmus or early vision concerns.<br /><br />Microarray analysis confirmed the 3.9 Mb triplication in the patient, with three copies in the mother and two copies in the father. Further analysis showed that the mother carries a duplication of the same region that is triplicated in the child, while the father has a normal copy number for this region.<br /><br />Reported duplications involving ELP4 and PAX6 are extremely rare. Of the reported cases, most involved only a portion of ELP4 and showed varied phenotypes, including developmental delay, seizures, and dysmorphism. One patient with a slightly larger duplication had ptosis but was otherwise well-developed. Another patient with a slightly larger duplication had no reported phenotype. A larger triplication not involving ELP4 and PAX6 was found in a patient with global developmental delay.<br /><br />In conclusion, the triplication of this region, rather than a duplication, may contribute to the patient's phenotype. The triplication could be de novo if it resulted from a misalignment during meiosis in a parent carrying a duplication. The mother, who carries a duplication, is healthy and has a minor phenotype, while a similar triplication case with a profound phenotype was recorded in a database.<br /><br />Overall, this case highlights the significance of ELP4 and PAX6 in eye development and suggests that the triplication of this region may contribute to the patient's symptoms. Further research is needed to understand the specific role of these genes and the mechanisms underlying the patient's phenotype.
Asset Subtitle
Presenting Author - Lei Zhang, PhD; Co-Author - Janda Jenkins, MS, CGC; Co-Author - Jennifer Roberts, MS; Co-Author - Elena A. Repnikova, PhD; Co-Author - Shivarajan M. Amudhavalli, MD; Co-Author - Marla Kennard, OD; Co-Author - Mary Champion, MD; Co-Author - John Herriges, PhD;
Meta Tag
Clinical Applications of Molecular Cytogenetics
Clinical Cytogenetics
Microarray
Co-Author
Janda Jenkins, MS, CGC
Co-Author
Jennifer Roberts, MS
Co-Author
Elena A. Repnikova, PhD
Co-Author
Shivarajan M. Amudhavalli, MD
Co-Author
Marla Kennard, OD
Co-Author
Mary Champion, MD
Co-Author
John Herriges, PhD
Presenting Author
Lei Zhang, PhD
Keywords
congenital nystagmus
mild speech delay
triplication
11p14.1p13
ELP4
PAX6
aniridia
retinal pigmentation
myopia
language delay
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