Coexistence of Megaconial Congenital Muscular Dystrophy and Cystinuria: Mimicking Hypotonia-Cystinuria Syndrome

Molecular syndromology

article

Surucu Kara, Ilknur¹  Oncul, Ummuhan¹  Kose, Engin¹  Turan, Husnu Mutlu²  Ceylan, Ahmet Cevdet²  Eminoglu, Fatma Tuba¹ 

[1] Department of Pediatric Metabolism, Faculty of Medicine, Ankara University;Department of Medical Genetics, Ankara City Hospital

关键词: Cystinuria;    Hypotonia-cystinuria syndrome;    Megaconial congenital muscular dystrophy;    Whole-exome sequencing;    Coexistence;   

DOI  :  10.1159/000520502

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

Introduction: Hypotonia-cystinuria syndrome is a contiguous gene deletion syndrome that is characterized by hypotonia, developmental delay, and cystinuria type A. We present a male patient who was admitted to our center with clinical findings of hypotonia-cystinuria syndrome and diagnosed with megaconial congenital muscular dystrophy and cystinuria. Case Presentation:T pathogenic variant in the CHKB gene and a c.1266_1267delGT heterozygous variant in the SLC7A9 gene inherited from the mother were identified with whole-exome sequencing. The co-occurrence of megaconial congenital muscular dystrophy and cystinuria, mimicking hypotonia-cystinuria syndrome, was confirmed. Conclusion: This case suggests that in countries with a high frequency of consanguineous marriage, even if the molecular genetic analysis results are not compatible with the clinical findings, it should be kept in mind that different genetic diseases may coexist.

【 授权许可】

CC BY