GMS Musculoskeletal specialist test group Skeletal dysplasia

Gene: AGA

Green List (high evidence)

causes skeletal abnormalities as well as connective tissue lesions. Note from panelapp - Patients may be tall for their age, but lack of a growth spurt in puberty typically causes adults to be short. Listed in Lysosomal storage diseases with skeletal involvement (dysostosis multiplex gp of SD). Possible short stature in adulthood - easily diagnosed biochemically. patients with AGU excrete large amounts of aspartylglucosamine in urine, biochemical detection is easy by urine chromatography - exclude before WGS? Note added by AW - AGA yes. Listed in Bonafe Am J Med Genet 16 (nosology of skeletal dysplasia). Also: He had a slow psychomotor development and skeletal changes consistent with numerous changes in small bones.- Khaldi, Saudi Med J 97; Aspartylglucosaminuria is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. OMIM; Review on behalf of Tracy Lester/Andrew Wilkie

Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aspartylglucosaminuria 208400 (Patients may be tall for their age, but lack of a growth spurt in puberty typically causes adults to be short)