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- Title
Mucopolysaccharidosis IIIB and mild skeletal anomalies: coexistence of <italic>NAGLU</italic> and <italic>CYP26B1</italic> missense variations in the same patient in a Chinese family.
- Authors
Li, Jinliang; Xie, Han; Jiang, Yuwu
- Abstract
Background: Sanfilippo type B syndrome (mucopolysac-charidosis type IIIB; MPS IIIB) is an autosomal recessive lysosomal storage disorder. It is caused by a critically reduced α-2-acetamido-2-deoxy-D-glucoside acetamidodeoxy glucohydrolase (α-<italic>N</italic>-acetylglucosaminidase or NAGLU) activity. Recently, an autosomal recessive disorder of skeletal dysplasia associated with <italic>CYP26B1</italic> was reported in three families, in which the patients were all homozygous variations. However, the co-occurrence of two rare diseases in a person is very rare. Here, we reported one patient with two novel pathogenic missense variations in <italic>NAGLU</italic> and <italic>CYP26B1</italic>. Case presentation: We found an infant with biallelic variation both in <italic>NAGLU</italic>-compound heterozygous c.1843C > T (p. R615C) and c.1224C > A (p. H408Q) as well as in <italic>CYP26B1</italic>-compound heterozygous c.529G > A (p. E177K) and c.525C > A (p. H175Q). All variations were novel but predicted pathogenicity according to American College of Medical Genetics and Genomics (ACMG) guidelines. The main phenotypes of the infant were quite different from those previously reported, and some were combinations of the two rare diseases, including epilepsy, early onset epileptic encephalopathy, hypermyotonia, skull deformity, dilatation of the lateral ventricles and premature closure of fontanel. His NAGLU enzyme activity was significantly decreased. Conclusions: <italic>NAGLU</italic> and <italic>CYP26B1</italic> mutations were related to MPS IIIB and skeletal dysplasia, respectively. Here, we first reported the pathogenic mutations of two genes concurrent in one patient, which not only expands the phenotype and genotype spectra of <italic>NAGLU</italic> and <italic>CYP26B1</italic>, but more importantly indicates the possibility of simultaneous occurrence of two rare diseases in one patient. This interesting finding should be attributed to the use of whole exome sequencing (WES), which indicates that we should be aware of the importance of WES in diagnosing rare diseases.
- Subjects
MUCOPOLYSACCHARIDOSIS treatment; SKELETAL dysplasia; MISSENSE mutation; GENE expression; PHENOTYPES; GENOTYPES
- Publication
BMC Medical Genetics, 2018, Vol 19, Issue 1, p1
- ISSN
1471-2350
- Publication type
Article
- DOI
10.1186/s12881-018-0562-4