A pair of twins with multicystic dysplastic kidney and hydrocephalus caused by a novel homozygous mutation in <i>SPATA33</i> and <i>CDK10</i>-Reference-Cited by-同舟云学术

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A pair of twins with multicystic dysplastic kidney and hydrocephalus caused by a novel homozygous mutation in SPATA33 and CDK10

Published:2024-01-05 Issue:4 Volume:117 Page:302-303
ISSN:1460-2725
Container-title:QJM: An International Journal of Medicine
language:en
Short-container-title:

Author:

Jia Y¹²,Liu W¹²,Wang J¹²,Zhang R¹²,Li M³,Liu S¹²

Affiliation:

1. Medical Genetic Department, The Affiliated Hospital of Qingdao University , NO.16 Jiang Su Road, Qingdao 266071, China

2. Prenatal Diagnosis Center, The Affiliated Hospital of Qingdao University , NO.16 Jiang Su Road, Qingdao 266071, China

3. Department of Urology, Qingdao Municipal Hospital Group , NO.5 Middle Dong Hai Road, Qingdao 266071, China

Funder

National Natural Science Foundation of China

National Key Research and Development Program of China

Publisher

Oxford University Press (OUP)

Link

https://academic.oup.com/qjmed/advance-article-pdf/doi/10.1093/qjmed/hcad289/56051198/hcad289.pdf

Reference6 articles.

1. CDK10 mutations in humans and mice cause severe growth retardation, spine malformations, and developmental delays;Windpassinger;Am J Hum Genet,2017

2. A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness;Guen;Am J Med Genet A,2018

3. Novel CDK10 variants with multicystic dysplastic kidney, left ventricular non-compaction, and a solitary median maxillary central incisor;Darcha;Clin Genet,2021

4. A sib-pair with Al kaissi syndrome caused by homozygosity for a novel CDK10 splice variant;Beriwal;Clin Dysmorphol,2023

5. Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations;Smogavec;Eur J Hum Genet,2022

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