Key result
Whole exome sequencing identifies an Xp21 deletion confirming complex glycerol kinase deficiency in two siblings.
Why the study?
Complex glycerol kinase deficiency is a rare disorder with diagnostic challenges that require genetic testing for confirmation.
Case Report (n=2)
Whole exome sequencing is essential for accurately diagnosing complex glycerol kinase deficiency and identifying the extent of contiguous gene deletions.
WES may aid diagnosis of complex glycerol kinase deficiency; leaves open broader utility pending additional cases.
Complex glycerol kinase deficiency (CGKD), also known as Xp21 contiguous gene deletion syndrome, is a rare X-linked recessive disorder resulting from partial deletion of the Xp21.3 chromosomal region. CGKD encompasses several loci, including glycerol kinase ( GK ), Duchenne muscular dystrophy ( DMD ), X-linked adrenal hypoplasia congenita ( NR0B1 ), and intellectual developmental disorder ( IL1RAPL1 ). We present the cases of two male siblings diagnosed with CGKD. The elder sibling was initially suspected of having congenital adrenal hypoplasia (CAH). Whole exome sequencing (WES) revealed an interstitial deletion of 6.6 Mb on Xp21.3p21.1, encompassing critical genes including GK , DMD , NR0B1 , and IL1RAPL1. The younger sibling was diagnosed shortly after birth based on family history, clinical and biochemical findings. The presented report highlights the diagnostic challenges associated with CGKD and the important role of genetic testing in confirming the diagnosis. A multidisciplinary team approach is necessary.
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Bregvadze et al. (2025) conducted a case report in Complex glycerol kinase deficiency (CGKD) (n=2). Whole exome sequencing (WES) was evaluated on Genetic diagnosis. Whole exome sequencing identified an interstitial deletion of 6.6 Mb on Xp21.3p21.1 in two male siblings, confirming the diagnosis of complex glycerol kinase deficiency.
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