Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation
Por:
Acosta-Fernandez, Elizabeth, Zenteno, Juan C., Chacon-Camacho, Oscar F., Pena-Padilla, Christian, Bobadilla-Morales, Lucina, Corona-Rivera, Alfredo, Romo-Huerta, Carmen O., Zepeda-Romero, Luz C., Lopez-Marure, Eloy, Acosta-Leon, Jorge, Garcia-Cruz, Diana, Maciel-Cruz, Eric Jonathan, Corona-Rivera, Jorge Roman
Publicada:
1 may 2020
Resumen:
We report a female patient with craniofrontonasal syndrome (CFNS) who in
addition showed other cranial and extracranial midline defects including
partial corpus callosum agenesis, ocular melanocytosis, pigmentary
glaucoma, duplex collecting system, uterus didelphys, and septate
vagina. She was found to have a novel pathogenic variant in exon 5 of
EFNB1, c.646G>T (p.Glu216*) predicted to cause premature protein
truncation. From our review, we found at least 39 published CFNS
patients with extracranial midline defects, comprising congenital
diaphragmatic hernia, congenital heart defects, umbilical hernia,
hypospadias, and less frequently, sacrococcygeal teratomas, and internal
genital anomalies in females. These findings support that the EFNB1
mutations have systemic consequences disrupting morphogenetic events at
the extracranial midline. Though these are not rigorously included as
midline defects, we found at least 10 CFNS patients with congenital
anomalies of the kidney and urinary tract, all females. Additionally,
uterus didelphys and ocular melanocytosis observed in our patient are
proposed also as a previously unreported EFNB1-related midline defects.
In addition, this case may be useful for considering the intentional
search for genitourinary anomalies in future patients with CFNS, which
will be helpful to define their frequency in this entity.
Filiaciones:
Acosta-Fernandez, Elizabeth:
Dr Juan I Menchaca Civil Hosp Guadalajara, Ctr Registry & Res Congenital Anomalies CRIAC, Serv Genet, Guadalajara, Jalisco, Mexico
Dr Juan I Menchaca Civil Hosp Guadalajara, Cytogenet Unit, Pediat Div, Guadalajara, Jalisco, Mexico
Zenteno, Juan C.:
Inst Ophthalmol Conde Valenciana, Dept Genet, Mexico City, DF, Mexico
Univ Nacl Autonoma Mexico, Dept Biochem, Fac Med, Mexico City, DF, Mexico
Chacon-Camacho, Oscar F.:
Inst Ophthalmol Conde Valenciana, Dept Genet, Mexico City, DF, Mexico
UNAM, Fac Super Studies Iztacala, Sch Med, Tlalnepantla, Mexico
Pena-Padilla, Christian:
Dr Juan I Menchaca Civil Hosp Guadalajara, Ctr Registry & Res Congenital Anomalies CRIAC, Serv Genet, Guadalajara, Jalisco, Mexico
Dr Juan I Menchaca Civil Hosp Guadalajara, Cytogenet Unit, Pediat Div, Guadalajara, Jalisco, Mexico
Bobadilla-Morales, Lucina:
Dr Juan I Menchaca Civil Hosp Guadalajara, Ctr Registry & Res Congenital Anomalies CRIAC, Serv Genet, Guadalajara, Jalisco, Mexico
Dr Juan I Menchaca Civil Hosp Guadalajara, Cytogenet Unit, Pediat Div, Guadalajara, Jalisco, Mexico
Univ Guadalajara, Hlth Sci Univ Ctr, Dr Enrique Corona Rivera Inst Human Genet, Dept Mol Biol & Genom, Guadalajara, Jalisco, Mexico
Corona-Rivera, Alfredo:
Dr Juan I Menchaca Civil Hosp Guadalajara, Ctr Registry & Res Congenital Anomalies CRIAC, Serv Genet, Guadalajara, Jalisco, Mexico
Dr Juan I Menchaca Civil Hosp Guadalajara, Cytogenet Unit, Pediat Div, Guadalajara, Jalisco, Mexico
Univ Guadalajara, Hlth Sci Univ Ctr, Dr Enrique Corona Rivera Inst Human Genet, Dept Mol Biol & Genom, Guadalajara, Jalisco, Mexico
Romo-Huerta, Carmen O.:
Dr Juan I Menchaca Civil Hosp Guadalajara, Serv Ophthalmol, Div Pediat, Guadalajara, Jalisco, Mexico
Zepeda-Romero, Luz C.:
Fray Antonio Alcalde Civil Hosp Guadalajara, Serv Neonatal Ophthalmol, Div Pediat, Guadalajara, Jalisco, Mexico
Lopez-Marure, Eloy:
Dr Juan I Menchaca Civil Hosp Guadalajara, Serv Radiol, Pediat Div, Guadalajara, Jalisco, Mexico
Acosta-Leon, Jorge:
Dr Juan I Menchaca Civil Hosp Guadalajara, Serv Urol, Pediat Div, Guadalajara, Jalisco, Mexico
Garcia-Cruz, Diana:
Univ Guadalajara, Hlth Sci Univ Ctr, Dr Enrique Corona Rivera Inst Human Genet, Dept Mol Biol & Genom, Guadalajara, Jalisco, Mexico
Maciel-Cruz, Eric Jonathan:
Univ Guadalajara, Hlth Sci Univ Ctr, Dr Enrique Corona Rivera Inst Human Genet, Dept Mol Biol & Genom, Guadalajara, Jalisco, Mexico
Corona-Rivera, Jorge Roman:
Dr Juan I Menchaca Civil Hosp Guadalajara, Ctr Registry & Res Congenital Anomalies CRIAC, Serv Genet, Guadalajara, Jalisco, Mexico
Dr Juan I Menchaca Civil Hosp Guadalajara, Cytogenet Unit, Pediat Div, Guadalajara, Jalisco, Mexico
Univ Guadalajara, Hlth Sci Univ Ctr, Dr Enrique Corona Rivera Inst Human Genet, Dept Mol Biol & Genom, Guadalajara, Jalisco, Mexico
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