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Macroglossia associated with 271 bp deletion in exon 50 of dystrophin gene.

Malhotra HS, Juyal R, Malhotra KP, Shukla R - Ann Indian Acad Neurol (2011)

Bottom Line: Macroglossia is rare in patients of Duchenne muscular dystrophy (DMD), and its occurrence without any endocrinologic abnormality, seizures or an abnormal karyotype is even rarer.We describe a patient of DMD with isolated macroglossia with 271 bp deletion in exon 50 of the dystrophin gene and speculate a relationship in this regard.

View Article: PubMed Central - PubMed

Affiliation: Department of Neurology, Institute of Human Behaviour and Allied Sciences, Dilshad Garden, Delhi, India.

ABSTRACT
Macroglossia is rare in patients of Duchenne muscular dystrophy (DMD), and its occurrence without any endocrinologic abnormality, seizures or an abnormal karyotype is even rarer. We describe a patient of DMD with isolated macroglossia with 271 bp deletion in exon 50 of the dystrophin gene and speculate a relationship in this regard.

No MeSH data available.


Related in: MedlinePlus

Agarose gel electrophoresis showing (arrow) absence of band in lane no. 15 when compared with normal control (lane no. 16) suggesting deletion involving exon 50
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Figure 0002: Agarose gel electrophoresis showing (arrow) absence of band in lane no. 15 when compared with normal control (lane no. 16) suggesting deletion involving exon 50

Mentions: The patient had a normal hemogram and routine biochemistry. Thyroid function tests and tests for integrity of hypothalamopituitary axis were found to be within normal limits. Serum creatine phosphokinase was raised (1,670 IU). Electrophysiological studies revealed normal nerve conduction velocities with borderline low amplitudes and a myopathic pattern on needle electromyography. Ultrasound study of the abdomen did not show any abnormality. The patient was subjected to muscle biopsy and genetic testing for deletion studies along with karyotyping. Muscle biopsy of quadriceps showed muscle fiber size variation with centralization of nuclei and small basophilic groups of fibers with interspersed fibrotic areas. There was no evidence of any abnormal accumulations. Immunohistochemistry revealed complete absence of staining for dystrophin. The karyotype of the patient was found to be 46 XY with GTG banding carried out on metaphase spreads obtained from 72-h blood cultures in the RPMI 1640 medium. DNA was isolated using standard protocols. Multiplex polymerase chain reaction was used to detect deletions in the various exons of the dystrophin gene. The amplimers were subjected to agarose gel electrophoresis and visualized by ethidium bromide staining. A 271 bp deletion was observed in exon 50 with this method [Figure 2]. No additional abnormality was seen on multiplex ligation-dependent probe amplification.


Macroglossia associated with 271 bp deletion in exon 50 of dystrophin gene.

Malhotra HS, Juyal R, Malhotra KP, Shukla R - Ann Indian Acad Neurol (2011)

Agarose gel electrophoresis showing (arrow) absence of band in lane no. 15 when compared with normal control (lane no. 16) suggesting deletion involving exon 50
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3108079&req=5

Figure 0002: Agarose gel electrophoresis showing (arrow) absence of band in lane no. 15 when compared with normal control (lane no. 16) suggesting deletion involving exon 50
Mentions: The patient had a normal hemogram and routine biochemistry. Thyroid function tests and tests for integrity of hypothalamopituitary axis were found to be within normal limits. Serum creatine phosphokinase was raised (1,670 IU). Electrophysiological studies revealed normal nerve conduction velocities with borderline low amplitudes and a myopathic pattern on needle electromyography. Ultrasound study of the abdomen did not show any abnormality. The patient was subjected to muscle biopsy and genetic testing for deletion studies along with karyotyping. Muscle biopsy of quadriceps showed muscle fiber size variation with centralization of nuclei and small basophilic groups of fibers with interspersed fibrotic areas. There was no evidence of any abnormal accumulations. Immunohistochemistry revealed complete absence of staining for dystrophin. The karyotype of the patient was found to be 46 XY with GTG banding carried out on metaphase spreads obtained from 72-h blood cultures in the RPMI 1640 medium. DNA was isolated using standard protocols. Multiplex polymerase chain reaction was used to detect deletions in the various exons of the dystrophin gene. The amplimers were subjected to agarose gel electrophoresis and visualized by ethidium bromide staining. A 271 bp deletion was observed in exon 50 with this method [Figure 2]. No additional abnormality was seen on multiplex ligation-dependent probe amplification.

Bottom Line: Macroglossia is rare in patients of Duchenne muscular dystrophy (DMD), and its occurrence without any endocrinologic abnormality, seizures or an abnormal karyotype is even rarer.We describe a patient of DMD with isolated macroglossia with 271 bp deletion in exon 50 of the dystrophin gene and speculate a relationship in this regard.

View Article: PubMed Central - PubMed

Affiliation: Department of Neurology, Institute of Human Behaviour and Allied Sciences, Dilshad Garden, Delhi, India.

ABSTRACT
Macroglossia is rare in patients of Duchenne muscular dystrophy (DMD), and its occurrence without any endocrinologic abnormality, seizures or an abnormal karyotype is even rarer. We describe a patient of DMD with isolated macroglossia with 271 bp deletion in exon 50 of the dystrophin gene and speculate a relationship in this regard.

No MeSH data available.


Related in: MedlinePlus