Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C)

Article Abstract:

The gene encoding the enzyme responsible for mucopolysaccharidosis IIIC (MPS IIIC) or Sanfilippo C was known to be localized to chromosome 8, but it was to be identified. A full-length mouse expressed sequence tag that is also expressed in human MPS IIIC is used to identify the full-length human homolog gene (HGSNAT), the mutational analysis of which identifies a splice-junction mutation that accounts for three mutant alleles, and a single base-pair insertion accounts for a fourth mutant allele.

Mucopolysaccharidosis, Mucopolysaccharidoses

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Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis

Article Abstract:

The gene responsible for pulmonary alveolar microlithiasis (PAM) is identified as SLC34A2 (the type IIb sodium-phosphate cotransporter gene) and homozygous exonic mutations of the gene are concluded to be the cause of PAM. Since this gene is also expressed in the testis, mutations in subjects with testicular microlithiasis (TM) are examined, and results reveal two rare variants, one synonymous and the other noncoding, that are possibly associated with the condition.

Diagnosis, Risk factors, Pulmonary alveolar proteinosis

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Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement

Article Abstract:

The expression in murine fetal brain and intestine of 56 genes from the critical region is analyzed to select candidate genes for the disease. Results indicated that one affected male from a large CIIPX-affected kindred bears a 2-bp deletion in exon 2 of the FLNA gene that is present at the heterozygous state in the carrier females of the family.

United States, Fetal brain

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