scholarly journals A case report of concomitant myopathy, adrenal insufficiency, and mental retardation linked with deletion of Xp21

2017 ◽  
Vol 63 (5) ◽  
pp. 329-333
Author(s):  
Elizaveta M. Orlova ◽  
Marina V. Kurkina ◽  
Leila S. Sozaeva ◽  
Maria A. Kareva ◽  
Ilya V. Kanivets ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Muscular Dystrophy ◽  
Adrenal Insufficiency ◽  
Chromosomal Abnormalities ◽  
Gene Dosage ◽  
Chromosome Region ◽  
Glycerol Kinase ◽  
Genetic Syndrome ◽  
Monogenic Disorders ◽  
Congenital Adrenal Hypoplasia

Contiguous gene syndromes (CGS) are the disorders caused by chromosomal abnormalities: deletions, duplications, or other complex rearrangements that alter gene dosage. Initially, before their chromosomal nature is elucidated, they may be misdiagnosed as monogenic disorders depending on the leading clinical symptom cluster. The altered chromosomal region in individuals with this condition is typically less than 5 Mb in size and sometimes cannot be identified by conventional karyotyping. Patients present with signs of the diseases associated with each individual monogenic disorder. The Xp21-linked genetic syndrome, or glycerol kinase deficiency (GKD) (MIM 300474), is an example of this syndrome [1–3]. The genes coding for glycerol kinase (GK), congenital adrenal hypoplasia (NR0B1), and dystrophin (DMD) follow each other in the Xp21.2—p21.3 region. Deletions of an X-chromosome region may cause several monogenic disorders in one patient, including primary adrenal insufficiency and hypogonadotropic hypogonadism as a result of deletion in the NR0B1 gene, Duchenne muscular dystrophy (or a milder form, Becker muscular dystrophy) resulting from deletion in the dystrophin gene, and mental retardation as a result of deletion in the glycerol kinase gene. We report a case of concomitant myopathy, adrenal insufficiency, and mental retardation linked with deletion of Xp21.

Congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency: importance of laboratory investigations in delineating a contiguous gene deletion syndrome

1994 ◽  
Vol 40 (11) ◽  
pp. 2099-2103 ◽  
Author(s):  
D E Cole ◽  
L A Clarke ◽  
D C Riddell ◽  
K A Samson ◽  
W K Seltzer ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Gene Deletion ◽  
Glycerol Kinase ◽  
Deletion Syndrome ◽  
Congenital Adrenal Hypoplasia ◽  
Contiguous Gene ◽  
Glycerol Kinase Deficiency ◽  
Adrenal Hypoplasia ◽  
Contiguous Gene Deletion Syndrome

Abstract We describe an infant with adrenal insufficiency who was subsequently diagnosed with Duchenne muscular dystrophy (DMD) and hyperglycerolemia due to glycerol kinase deficiency. Karyotyping showed a deletion on the short arm of the X chromosome (p21.1 to p22.1). Molecular mapping revealed that the deletion extended from the 3' end of the DMD gene to a site telomeric to the loci for X-linked congenital adrenal hypoplasia and glycerol kinase deficiency. These results are diagnostic for an Xp21 contiguous gene deletion syndrome--so named because the deletion manifests as a distinctive cluster of otherwise unrelated single-gene disorders in the same individual. The Xp21 syndrome should be considered in any infant with adrenal insufficiency. Measurement of serum triglycerides (without glycerol blanking) and creatine kinase activity are simple screening tests that may facilitate early diagnosis and appropriate genetic counseling about risks of recurrence in subsequent offspring.

scholarly journals A rare co-occurrence of duchenne muscular dystrophy, congenital adrenal hypoplasia and glycerol kinase deficiency due to Xp21 contiguous gene deletion syndrome: case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Asanka Rathnasiri ◽  
Udara Senarathne ◽  
Visvalingam Arunath ◽  
Thabitha Hoole ◽  
Ishara Kumarasiri ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Gene Deletion ◽  
Glycerol Kinase ◽  
Deletion Syndrome ◽  
Congenital Adrenal Hypoplasia ◽  
Contiguous Gene ◽  
Glycerol Kinase Deficiency ◽  
Adrenal Hypoplasia ◽  
Contiguous Gene Deletion Syndrome

Abstract Background Contiguous gene deletion syndromes are rare genomic disorders caused by deletion of large segments of DNA resulting in co-occurrence of apparently unrelated multiple clinical phenotypes. We report a boy with contiguous gene deletion involving Xp21 genomic location. Case presentation A Sri Lankan boy with developmental delay and failure to thrive first presented at three years of age with hypovolaemia, hyperpigmentation and drowsiness. Investigations done at that time revealed hypoglycaemia, hyponatraemia, hyperkalaemia, low cortisol, low aldosterone, high ACTH and low 17-hydroxyprogesterone. He was diagnosed to have primary adrenal insufficiency. During follow-up at five years, he was noted to have progressive difficulty in walking, waddling gait, hypotonia, calf hypertrophy and positive Gower’s sign. His creatine kinase was very high, and the electromyogram showed myopathy. Genetic analysis revealed hemizygous deletion involving the final 35 exons of the dystrophin gene confirming the diagnosis of Duchenne muscular dystrophy. Further investigations revealed pseudohypertriglyceridemia, large glycerol peak on urine organic acid analysis and hemizygous deletion of the glycerol kinase gene confirming glycerol kinase deficiency. Based on the presence of Duchenne muscular dystrophy, glycerol kinase deficiency and probable congenital adrenal hypoplasia along with genetic confirmation of deletions involving dystrophin and glycerol kinase genes, the diagnosis of Xp21 contiguous gene deletion syndrome was made. Conclusions We report a child with contiguous gene deletion syndrome who was initially diagnosed as having isolated primary adrenal insufficiency probably due to congenital adrenal hypoplasia. Later he was confirmed to have Duchenne muscular dystrophy and glycerol kinase deficiency, as well. This case report highlights the importance of pre-emptive evaluation and identification of genetic defects when patients present with seemingly unrelated diseases that could aid in accurate diagnoses of contiguous gene deletion syndromes.

scholarly journals A diagnostic clinical genetic study of craniofacial dysmorphism

1999 ◽  
Vol 5 (3) ◽  
pp. 470-477
Author(s):  
H. M. Farag ◽  
S. M. Kotb ◽  
G. A. Sweify ◽  
R. K. Fawzy ◽  
S. R. lsmail
Keyword(s):  
Chromosomal Abnormalities ◽  
Pedigree Analysis ◽  
Clinical Genetic ◽  
Genetic Syndrome ◽  
Monogenic Disorders ◽  
Craniofacial Dysmorphism ◽  
Genetic Examination ◽  
Age Range ◽  
Radiological Studies

A diagnostic evaluation of craniofacial anomalies, either isolated or as part of a genetic syndrome was conducted on 25 patients [8 females, 17 males], age range 2 months to 47 years. Complete genetic examination, pedigree analysis, anthropometric measurements and radiological studies were carried out. Cytogenetic studies included fluorescence in situ hybridization [FISH]when indicated. In all, 15 patients had chromosomal abnormalities. Five patients had unbalanced chromosome rearrangements and six had chromosome markers. Three patients were FISH-positive for William syndrome and one was positive for Prader-Willi syndrome. Ten patients had monogenic disorders. Five were diagnosed as craniosynostosis syndromes. We conclude that minor features are useful for making a diagnosis of congenital anomalies

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