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ASSOCIATION OF DEVELOPMENTAL DELAY, CONGENITAL ADRENAL HYPOPLASIA, DUCHENNE MUSCULAR DYSTROPHY AND GLYCEROL KINASE DEFICIENCY: A RARE Xp21 CONTIGUOUS GENE DELETION SYNDROME.

Chromosomal microdeletions and duplications are one of the major causes of congenital malformations and developmental delay.Lately by the effect of array-CGH,many new syndromes are defined in patients with congenital malformations and developmental delay.Xp21 contiguous gene deletion syndrome is one of the rare microdeletion syndromes.This syndrome is characterized by developmental delay,congenital adrenal hypoplasia, DuchenneMuscularDystrophy (DMD) and glycerol kinase deficiency.

7 years old boy was hospitalized due to dehydration,hyponatremia and hypoglycemia on postnatal 20th day and diagnosed as congenital adrenal hypoplasia. His twin died with the same diagnosis when he was 1 month old.On further examinations,it was noticed that he had neuromotor developmental delay,hypotonia,lethargy and elevated triglyceride and creatinine kinase (CK). He was consulted to our clinic due to coexistence of developmental delay, congenital adrenal hypoplasia, glycerol kinase deficiency and DMD.Chromosomal analysis was 46,XY. On array-CGH a 7 Mb deletion (>1500 probes) in Xp21.1p21.2 was detected.

Xp21 contiguous gene deletion is a microdeletion syndrome with intellectual disability,congenital adrenal hypoplasia,glyserol kinase deficiency and dystrophinopathy.It is a rare disease, reported in around 100 boys and 8 girls in the literature to date.In Xp21 locus,there are dystrophin, GK,DAX1 (NROB1) and IL1RAPL1 genes which are related with dystrophinopathy,glycerol kinase, congenital adrenal hypoplasia and intellectual disability, respectively.In our patient,there was Xp21 deletion including dystrophin,GK,DAX1 and IL1RAPL1 genes.

In this report,we aim to emphasize that according the deleted genes in contiguous gene deletions there might be coexistence of more than one disease and by the array-CGH it is possible to identify related genes.

Engin Altundag (1), Cengiz Kara (2), Aslihan Sanri (3), Hatice Mutlu Albayrak (3), Hatice Yelda Yalcin (3), Gonul Ogur (1, 3)

(1) Department of Medical Genetics, Ondokuz Mayis University Medical Faculty, Samsun, Turkey

(2) Department of Pediatric Endocrinology, Ondokuz Mayis University Medical Faculty, Samsun, Turkey

(3) Department of Pediatric Genetics, Ondokuz Mayis University Medical Faculty, Samsun, Turkey

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Title Annotation:Poster Presentation Abstracts
Author:Altundag, Engin; Kara, Cengiz; Sanri, Aslihan; Albayrak, Hatice Mutlu; Yalcin, Hatice Yelda; Ogur, G
Publication:Erciyes Medical Journal
Article Type:Case study
Date:Jun 1, 2017
Words:328
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