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Indian Journal of Pediatrics
Published in: Indian Journal of Pediatrics 6/2020

01-06-2020 | Intellectual Disability | Scientific Letter

A New Pathogenic Variant of CAKUTHED Diagnosed Based on Intellectual Disability

Authors: Shinichiro Morichi, Shinji Suzuki, Akiko Kasuga, Yu Ishida, Gaku Yamanaka, Yasuyo Kashiwagi, Hisashi Kawashima

Published in: Indian Journal of Pediatrics | Issue 6/2020

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Excerpt

To the Editor: Congenital Anomalies of Kidney and Urinary Tract syndrome with or without Hearing loss, abnormal Ears or Developmental delay (CAKUTHED) is characterized by facial dysmorphology and external ear anomalies in addition to renal lesions [1]. This disease is characterized with haploinsufficiency of the PBX-1 (Pre-B cell leukemia homeobox) gene, which may be involved in its etiology [2]. Its incidence is unclear, and no case report on it has been published in Japan. …
Literature
1.
Toka HR, Toka O, Hariri A, et al. Congenital anomalies of kidney and urinary tract. Semin Nephrol. 2010;30:374–86.CrossRef
2.
3.
Nicolaou N, Renkema KY, Bongers EM, et al. Genetic, environmental, and epigenetic factors involved in CAKUT. Nat Rev Nephrol. 2015;11:720–31.CrossRef
4.
Heidet L, Moriniere V, Henry C, et al. Targeted exome sequencing identifies PBX1 as involved in monogenic congenital anomalies of the kidney and urinary tract. J Am Soc Nephrol. 2017;28:2901–14.CrossRef
5.
Le Tanno P, Breton J, Bidart M, et al. PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans. J Med Genet. 2017;54:502–10.CrossRef
Metadata
Title
A New Pathogenic Variant of CAKUTHED Diagnosed Based on Intellectual Disability
Authors
Shinichiro Morichi
Shinji Suzuki
Akiko Kasuga
Yu Ishida
Gaku Yamanaka
Yasuyo Kashiwagi
Hisashi Kawashima
Publication date
01-06-2020
Publisher
Springer India
Published in
Indian Journal of Pediatrics / Issue 6/2020
Print ISSN: 0019-5456
Electronic ISSN: 0973-7693
DOI
https://doi.org/10.1007/s12098-019-03091-3

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