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A novel heterozygous GLI2 mutation in a patient with congenital urethral
stricture and renal hypoplasia/dysplasia leading to end-stage renal failure
#MMPMID29318530
Shirakawa T
; Nakashima Y
; Watanabe S
; Harada S
; Kinoshita M
; Kihara T
; Hamasaki Y
; Shishido S
; Yoshiura KI
; Moriuchi H
; Dateki S
CEN Case Rep
2018[May]; 7
(1
): 94-97
PMID29318530
show ga
Glioblastoma 2 (GLI2) is a mediator of Sonic hedgehog signaling pathway that
plays an important role in development of the central nervous system and limbs.
Heterozygous GLI2 mutations have been associated with postaxial polydactyly,
various pituitary dysfunction, and holoprosencephaly-like phenotype. Herein, we
report a Japanese boy who presented with isolated growth hormone deficiency with
ectopic posterior pituitary, postaxial polydactyly, atrioventricular septal
defect, intellectual disability and dysmorphic facial features including
mid-facial hypoplasia. The patient was also complicated with congenital urethral
stricture with megacystis, hydronephrosis, and renal hypoplasia/dysplasia, which
led to end-stage renal failure by the age of 8 years. Trio-whole-exome sequencing
showed a novel de novo heterozygous frameshift mutation in GLI2 (c.3369delG,
p.Met1123Ilefs*7) in the patient. This is the first report of possible
association between GLI2 mutation and the phenotype of congenital anomalies of
the kidney and urinary tract, and subsequent end-stage renal failure. Further
studies on the urogenital phenotype in patients with GLI2 mutations may clarify a
role of GLI2 in embryonic development of the urinary tract.
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