Compound heterozygous GNPTAB mutations cause mucolipidosis II or III alpha/beta in two Chinese families.

ABSTRACT:

Objective

Mucolipidosis II and III alpha/beta (ML II & ML III alpha/beta) are rare autosomal recessive lysosomal storage disorders. ML II is clinically evident from birth with a progressive course and fatal outcome in childhood. The typical phenotypes of ML II include limited statural growth, craniofacial abnormality, skeletal malformation, intelligence developmental deficiency and visceral organ abnormality. ML III is milder than ML II. Mutations in GNPTAB cause the ML II/III.

Methods

Two families with ML II/III (initially undiagnosed) were recruited. We applied whole-exome sequencing (WES) and filtered mutations by genes causing lysosomal storage diseases with skeletal involvement. Mutational analysis and co-segregation confirmation were then performed.

Results</

SUBMITTER: Yu F 

PROVIDER: S-EPMC6949696 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature