Case report: Birk–Landau–Perez syndrome linked to the SLC30A9 gene—identification of additional cases and expansion of the phenotypic spectrum

Frontiers in Genetics

Genetics

Praseetha Kizhakkedath¹  Saeed Al-Turki¹  Hiba Alblooshi¹  Mohammed Tabouni¹  Ibrahim Baydoun¹  Anne John¹  Fatma Al-Jasmi²  Watfa AlDhaheri³  Taleb M. Almansoori⁴ 

[1] Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates;Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates;Department of Pediatrics, Tawam Hospital, Al Ain, United Arab Emirates;Department of Pediatrics, Tawam Hospital, Al Ain, United Arab Emirates;Department of Radiology, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates;

关键词: hyperechogenic kidneys;    ataxia;    oculomotor apraxia;    developmental regression;    tubulointerstitial nephritis;    zinc transporter;    BILAPES;   

DOI  :  10.3389/fgene.2023.1219514

 received in 2023-05-09, accepted in 2023-07-06,  发布年份 2023

来源: Frontiers

【 摘 要 】

Birk–Landau–Perez syndrome (BILAPES) is an autosomal recessive cerebro-renal syndrome associated with genetic defects in the SLC30A9 gene, initially reported in 2017 in six individuals belonging to a large Bedouin kindred. The SLC30A9 gene encodes a putative mitochondrial zinc transporter with ubiquitous expression, the highest found in the brain, kidney, and skeletal muscle. Since the first report, only one additional affected patient has been described, but there were some inconsistencies, such as hearing loss, failure to thrive, and neuroimaging findings between the clinical presentation of the disease in the Bedouin family and the second patient. Here, we present two more patients from a consanguineous Middle Eastern family with features of chronic kidney disease, neurodevelopmental regression, ataxia, hearing loss, and eye abnormalities, which were largely consistent with BILAPES. Whole-exome sequencing detected a homozygous in-frame deletion c.1049_1051delCAG (p.Ala350del) in the SLC30A9 gene, which was the same variant detected in the patients from the primary literature report and the variant segregated with disease in the family. However, in the patients described here, brain MRI showed cerebellar atrophy, which was not a cardinal feature of the syndrome from the primary report. Our findings provide further evidence for SLC30A9-associated BILAPES and contribute to defining the clinical spectrum.

【 授权许可】

Unknown   
Copyright © 2023 Kizhakkedath, AlDhaheri, Baydoun, Tabouni, John, Almansoori, Al-Turki, Al-Jasmi and Alblooshi.