Unknown

Dataset Information

0

Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report.

ABSTRACT: BACKGROUND:Dystroglycanopathies, which are caused by reduced glycosylation of alpha-dystroglycan, are a heterogeneous group of neurodegenerative disorders characterized by variable brain and skeletal muscle involvement. Muscle-eye-brain disease (or muscular dystrophy-dystroglycanopathy type 3 A) is an autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, and lissencephaly. CASE PRESENTATION:We report clinical and genetic characteristics of a 6-year-old boy affected by muscular dystrophy-dystroglycanopathy. He has severe a delay in psychomotor and speech development, muscle hypotony, congenital myopia, partial atrophy of the optic nerve disc, increased level of creatine kinase, primary-muscle lesion, polymicrogyria, ventriculomegaly, hypoplasia of the corpus callosum, cysts of the cerebellum. Exome sequencing revealed compound heterozygous mutations in POMGNT1 gene (transcript NM_001243766.1): c.1539?+?1G?>?A and c.385C?>?T. CONCLUSIONS:The present case report shows diagnostic algorithm step by step and helps better understand the clinical and genetic features of congenital muscular dystrophy.

SUBMITTER: Borisovna KO 

PROVIDER: S-EPMC6454623 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

<h4>Background</h4>Dystroglycanopathies, which are caused by reduced glycosylation of alpha-dystroglycan, are a heterogeneous group of neurodegenerative disorders characterized by variable brain and skeletal muscle involvement. Muscle-eye-brain disease (or muscular dystrophy-dystroglycanopathy type 3 A) is an autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, and lissencephaly.<h4>Case presentation</h4>We report clinical and genetic characteristics  ...[more]

Similar Datasets

Unknown Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1.
| S-EPMC5487925 | biostudies-literature
Unknown Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations of <i>LAMA2</i> gene.
| S-EPMC10316388 | biostudies-literature
Unknown Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.
| S-EPMC3800268 | biostudies-literature
Unknown Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy.
| S-EPMC5339112 | biostudies-literature
Unknown Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy.
| S-EPMC9481448 | biostudies-literature
Unknown Novel compound heterozygous mutations resulting in cone dystrophy with supernormal rod response.
| S-EPMC4377131 | biostudies-literature
Unknown Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal recessive limb-girdle muscular dystrophy-1: a case report.
| S-EPMC8645139 | biostudies-literature
Unknown Congenital Muscular Dystrophy due to <i>POMGNT1</i> Mutation Presenting as Cardioembolic Stroke.
| S-EPMC9350751 | biostudies-literature
Unknown Delayed onset of congenital hereditary endothelial dystrophy due to compound heterozygous SLC4A11 mutations.
| S-EPMC5026072 | biostudies-literature
Unknown CHRNE compound heterozygous mutations in congenital myasthenic syndrome: A case report.
| S-EPMC5944527 | biostudies-literature