Non-classical 1p36 deletion in a patient with Duane retraction syndrome: case report and literature review
Por:
Yokoyama, Emiy, Villarroel, Camilo E., Diaz, Sinhue, DEL CASTILLO, VICTORIA, Perez-Vera, Patricia, Salas, Consuelo, Gomez, Samuel, Barreda, Renee, Molina, Bertha, FRIAS, SARA
Publicada:
7 sep 2020
Resumen:
Background Monosomy of 1p36 is considered the most common terminal
microdeletion syndrome. It is characterized by intellectual disability,
growth retardation, seizures, congenital anomalies, and distinctive
facial features that are absent when the deletion is proximal, beyond
the 1p36.32 region. In patients with proximal deletions, little is known
about the associated phenotype, since only a few cases have been
reported in the literature. Ocular manifestations in patients with
classical 1p36 monosomy are frequent and include strabismus, myopia,
hypermetropia, and nystagmus. However, as of today only one patient with
1p36 deletion and Duane retraction syndrome (DRS) has been reported.
Case presentation We describe a patient with intellectual disability,
facial dysmorphism, and bilateral Duane retraction syndrome (DRS) type
1. Array CGH showed a 7.2 Mb de novo deletion from 1p36.31 to 1p36.21.
Discussion Our patient displayed DRS, which is not part of the classical
phenotype and is not a common clinical feature in 1p36 deletion
syndrome; we hypothesized that this could be associated with the
overlapping deletion between the distal and proximal 1p36 regions. DRS
is one of the Congenital Cranial Dysinnervation Disorders, and a genetic
basis for the syndrome has been extensively reported. TheHES3gene is
located at 1p36.31 and could be associated with oculomotor alterations,
including DRS, since this gene is involved in the development of the 3rd
cranial nerve and the 6th cranial nerve's nucleus. We propose that
oculomotor anomalies, including DRS, could be related to proximal 1p36
deletion, warranting a detailed ophthalmologic evaluation of these
patients.
Filiaciones:
Yokoyama, Emiy:
Inst Nacl Pediatria, Dept Genet Humana, Mexico City, DF, Mexico
Villarroel, Camilo E.:
Inst Nacl Pediatria, Dept Genet Humana, Mexico City, DF, Mexico
Diaz, Sinhue:
Enlace Cient, Shire Pharmaceut Mexico, Mexico City, DF, Mexico
DEL CASTILLO, VICTORIA:
Inst Nacl Pediatria, Dept Genet Humana, Mexico City, DF, Mexico
Perez-Vera, Patricia:
Inst Nacl Pediatria, Dept Genet Humana, Lab Genet & Canc, Mexico City, DF, Mexico
Salas, Consuelo:
Inst Nacl Pediatria, Dept Genet Humana, Lab Genet & Canc, Mexico City, DF, Mexico
Gomez, Samuel:
CRIT Chiapas, Tuxtla, Mexico
Barreda, Renee:
Inst Nacl Pediatria, Dept Genet Humana, Mexico City, DF, Mexico
Molina, Bertha:
Inst Nacl Pediatria, Dept Genet Humana, Lab Citogenet, Mexico City, DF, Mexico
FRIAS, SARA:
Inst Nacl Pediatria, Dept Genet Humana, Lab Citogenet, Mexico City, DF, Mexico
Univ Nacl Autonoma Mexico, Inst Invest Biomed, Ave IMAN 1, Mexico City 04530, DF, Mexico
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