J Pediatr Genet 2020; 09(04): 270-278
DOI: 10.1055/s-0039-3402048
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Peruvian Newborn Male with 3p13 Deletion Syndrome Encompassing the FOXP1 Gene: Review of the Literature

1  Servicio de Genética y Errores Innatos del Metabolismo, Instituto Nacional de Salud del Niño, Lima, Perú
2  Facultad de Medicina Humana, Universidad Ricardo Palma, Lima, Perú
3  Facultad de Odontología, Universidad Científica del Sur, Lima, Perú
,
1  Servicio de Genética y Errores Innatos del Metabolismo, Instituto Nacional de Salud del Niño, Lima, Perú
,
1  Servicio de Genética y Errores Innatos del Metabolismo, Instituto Nacional de Salud del Niño, Lima, Perú
,
1  Servicio de Genética y Errores Innatos del Metabolismo, Instituto Nacional de Salud del Niño, Lima, Perú
4  Laboratorio de Genética Humana, Universidad Nacional Mayor de San Marcos, Lima, Perú
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5  Hospital Antonio Lorena, Cusco, Perú
6  Escuela Profesional de Medicina Humana, Universidad Nacional de San Antonio Abad del Cusco, Cusco, Perú
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6  Escuela Profesional de Medicina Humana, Universidad Nacional de San Antonio Abad del Cusco, Cusco, Perú
› Institutsangaben
Funding This research was supported by Universidad Nacional de San Antonio Abad de Cusco.
Weitere Informationen

Publikationsverlauf

09. August 2019

19. November 2019

Publikationsdatum:
06. Januar 2020 (online)

Abstract

Copy number variation in loss of 3p13 is an infrequently reported entity characterized by hypertelorism, aniridia, microphthalmia, high palate, neurosensorial deafness, camptodactyly, heart malformation, development delay, autism spectrum disorder, seizures, and choanal atresia. The entity is caused probably by haploinsufficiency for FOXP1, UBA3, FAM19A1, and MITF. We report a newborn male with hypotonia, facial dysmorphism, heart malformation, and without clinical diagnosis; nevertheless, the use of appropriate genetic test, such us the chromosomal microarray analysis allowed identification of a copy number variant in loss of 5.5 Mb at chromosome 3 (p13-p14.1), that included 54 genes, encompassing FOXP1 gene. We compare the findings in our Peruvian patient to those of earlier reported patients; furthermore, add new signs for this entity.

Ethical Approval

The present study was performed following the ethical regulations of “Instituto Nacional de Salud del Niño,” and parental informed written consent was obtained for publication.