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Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation
Author(s) -
AcostaFernández Elizabeth,
Zenteno Juan C.,
ChacónCamacho Oscar F.,
PeñaPadilla Christian,
BobadillaMorales Lucina,
CoronaRivera Alfredo,
RomoHuerta Carmen O.,
ZepedaRomero Luz C.,
LópezMarure Eloy,
AcostaLeón Jorge,
GarcíaCruz Diana,
MacielCruz Eric Jonathan,
CoronaRivera Jorge Román
Publication year - 2020
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61506
Subject(s) - medicine , uterus didelphys , renal agenesis , genitourinary system , diaphragmatic hernia , anatomy , umbilical hernia , agenesis , agenesis of the corpus callosum , uterus , pathology , hernia , corpus callosum , surgery , kidney
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.