Carss et al. (2013) reported an 8-year-old Pakistani boy who presented at birth with increased muscle tone, microcephaly, cleft palate, and feeding difficulties. He later showed severe muscle weakness, delayed walking (only with support at age 3 years), ... Carss et al. (2013) reported an 8-year-old Pakistani boy who presented at birth with increased muscle tone, microcephaly, cleft palate, and feeding difficulties. He later showed severe muscle weakness, delayed walking (only with support at age 3 years), and severe intellectual development with lack of speech. Other features included sensorineural hearing loss, ataxia, and retinal dysfunction. Serum creatine kinase was increased, and muscle biopsy showed dystrophic features with hypoglycosylation of alpha-dystroglycan (DAG1; 128239). Brain MRI revealed pontine and cerebellar hypoplasia. Isoelectric focusing of transferrin was normal. The diagnosis was a muscle-eye-brain- and/or an FCMD (253800)-like disorder.
In a Pakistani boy with MDDGA14, Carss et al. (2013) identified compound heterozygous mutations in the GMPPB gene (615320.0001 and 615320.0002). The mutations were identified by exome sequencing, confirmed by Sanger sequencing, and not found in large control ... In a Pakistani boy with MDDGA14, Carss et al. (2013) identified compound heterozygous mutations in the GMPPB gene (615320.0001 and 615320.0002). The mutations were identified by exome sequencing, confirmed by Sanger sequencing, and not found in large control databases. Each unaffected parent was heterozygous for 1 of the mutations.