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N Sreedevi1, N Swapna2, Santosh Maruthy1
1Department of Speech-Language Sciences, All India Institute of Speech and Hearing, Mysore, Karnataka, India.
Insights
Congenital disorder of glycosylation (CDG) is a rare genetic condition. Whole-exome sequencing confirmed a PMM2 gene variant in a patient with developmental delays and neurological symptoms.
Area of Science:
- Genetics
- Biochemistry
- Neurology
Background:
- Congenital disorder of glycosylation (CDG) is an autosomal recessive condition.
- Key symptoms include hypotonia, developmental delay, and neurological abnormalities.
- Early diagnosis is crucial for managing CDG's complex manifestations.
Abstract:
Congenital disorder of glycosylation (CDG) is an autosomal recessively inherited disorder. Hypotonia, stroke-like episodes, and peripheral neuropathy are also associated with the condition that typically develops during infancy. The patient, a 12-year-old girl born to healthy consanguineous parents, was diagnosed with cerebral palsy as a child. The affected patient has hypotonia, inadequate speech, strabismus, and developmental delay with mild mental retardation, which are key symptoms of CDG. Whole-exome sequencing (WES) identified the known missense pathogenic variant PMM2 c.710 C > T, p.T237M in the patient coding for the phosphomannomutase 2 (PMM2) confirming molecular testing of CDG. The patient's parents carried heterozygous PMM2 c.710 C > T variants. This study highlights the importance of WES in patients with a developmental disability or other neurological conditions, which is also useful in screening risk factors in couples with infertility or miscarriage issues.