Abstract | BACKGROUND: CASE PRESENTATION: Both children were characterized by the presence of pectus carinatum, kyphoscoliosis, nocturnal enuresis, urinary incontinence, normal intelligence, and loss of strength in the legs, diagnosed as neurogenic bladder in association with MPS IVA through the analysis of the clinical characteristics, enzyme activity and genetic testing. In addition, the terminator codon mutation c.1567T > G (p.X523E) and a novel missense mutation c.575A > G (p.E192G) were found in the coding region of the GALNS gene of the 1st patient, while the missense mutation c.488C > A (p.P163H) was found in the coding region of the GALNS gene of the 2nd patient. CONCLUSIONS:
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Authors | Zhuhui Ge, Jianhua Mao, Huijun Shen, Yu Xu, Haidong Fu, Weiwei Zhang, Dongyan Li |
Journal | BMC pediatrics
(BMC Pediatr)
Vol. 21
Issue 1
Pg. 18
(01 06 2021)
ISSN: 1471-2431 [Electronic] England |
PMID | 33407246
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Review)
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Chemical References |
- Chondroitinsulfatases
- GALNS protein, human
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Topics |
- Child
- Chondroitinsulfatases
(genetics)
- Genetic Testing
- Humans
- Mucopolysaccharidosis IV
(complications, diagnosis, genetics)
- Mutation
- Urinary Bladder, Neurogenic
(etiology, genetics)
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