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Conference Paper: Leukodystrophy in a Chinese boy: a novel FUCA1 mutation causing Fucosidosis (Case Report)

TitleLeukodystrophy in a Chinese boy: a novel FUCA1 mutation causing Fucosidosis (Case Report)
Authors
Issue Date2002
Citation
The 31st Annual Meeting of the Child Neurology Society (CNS 2002), Washington DC., 9-12 October 2002. In Annals of Neurology, 2002, v. 52 n. 3 suppl., p. S148, abstract no. 139 How to Cite?
AbstractFucosidosis is a autosomal recessive neurodegenerative condition. It is a lysosomal storage disorder caused by deficient α-1-fucosidase activity leading to accumulation of fucose-containing glycolipids and glycoproteins in various tissues. We report a 5-year-old Chinese boy with parental consanguinity. He presented with global developmental delay and magnetic resonance imaging evidence of leukodystrophy. He was later found to have decreased α-fucosidase activity in peripheral leukocytes (2.4nmol/mg protein/hr; control 24–162) and skin fibroblast cultures (0.24nmol/mg protein/hr; control 96–360). His development became static at 2.5 years and deteriorated gradually after that. The FUCA-1 gene was analyzed by generating complementary DNA from total RNA isolated from his (cultured) skin fibroblasts. Two known homozygous polymorphism, S264C (809C3G) and Q281R (860A3G), were detected. A homozygous single-base substitution (396T3A) was found in exon 2, causing a stop codon mutation (Y126X). This sequence is not found within the FUCA pseudogene and is a novel mutation. Previously, 22 mutations of the FUCA1 gene and 3 additional mutations have been reported. Including our report, the 26 FUCA1 mutations are predominantly nonsense mutations (19/26), resulting from either point mutations or deletions. The relative scarcity of missense mutations (4/26) may imply the presence of alternate or compensatory enzymatic pathways capable of modifying the clinical severity. Identification of molecular defect in this child could help future prenatal diagnosis for this family.
DescriptionPoster Session - Clinical Practice (Diagnosis): no. 139
Persistent Identifierhttp://hdl.handle.net/10722/106270
ISSN
2023 Impact Factor: 8.1
2023 SCImago Journal Rankings: 3.600

 

DC FieldValueLanguage
dc.contributor.authorGoh, WHSen_HK
dc.contributor.authorIp, Pen_HK
dc.contributor.authorChan, KWen_HK
dc.contributor.authorCheung, PTen_HK
dc.date.accessioned2010-09-25T23:08:43Z-
dc.date.available2010-09-25T23:08:43Z-
dc.date.issued2002en_HK
dc.identifier.citationThe 31st Annual Meeting of the Child Neurology Society (CNS 2002), Washington DC., 9-12 October 2002. In Annals of Neurology, 2002, v. 52 n. 3 suppl., p. S148, abstract no. 139en_HK
dc.identifier.issn0364-5134-
dc.identifier.urihttp://hdl.handle.net/10722/106270-
dc.descriptionPoster Session - Clinical Practice (Diagnosis): no. 139-
dc.description.abstractFucosidosis is a autosomal recessive neurodegenerative condition. It is a lysosomal storage disorder caused by deficient α-1-fucosidase activity leading to accumulation of fucose-containing glycolipids and glycoproteins in various tissues. We report a 5-year-old Chinese boy with parental consanguinity. He presented with global developmental delay and magnetic resonance imaging evidence of leukodystrophy. He was later found to have decreased α-fucosidase activity in peripheral leukocytes (2.4nmol/mg protein/hr; control 24–162) and skin fibroblast cultures (0.24nmol/mg protein/hr; control 96–360). His development became static at 2.5 years and deteriorated gradually after that. The FUCA-1 gene was analyzed by generating complementary DNA from total RNA isolated from his (cultured) skin fibroblasts. Two known homozygous polymorphism, S264C (809C3G) and Q281R (860A3G), were detected. A homozygous single-base substitution (396T3A) was found in exon 2, causing a stop codon mutation (Y126X). This sequence is not found within the FUCA pseudogene and is a novel mutation. Previously, 22 mutations of the FUCA1 gene and 3 additional mutations have been reported. Including our report, the 26 FUCA1 mutations are predominantly nonsense mutations (19/26), resulting from either point mutations or deletions. The relative scarcity of missense mutations (4/26) may imply the presence of alternate or compensatory enzymatic pathways capable of modifying the clinical severity. Identification of molecular defect in this child could help future prenatal diagnosis for this family.-
dc.languageengen_HK
dc.relation.ispartofAnnals of Neurologyen_HK
dc.titleLeukodystrophy in a Chinese boy: a novel FUCA1 mutation causing Fucosidosis (Case Report)en_HK
dc.typeConference_Paperen_HK
dc.identifier.emailIp, P: patricip@hku.hken_HK
dc.identifier.emailCheung, PT: ptcheung@hkucc.hku.hken_HK
dc.identifier.authorityCheung, PT=rp00351en_HK
dc.identifier.doi10.1002/ana.5042-
dc.identifier.hkuros74965en_HK
dc.identifier.volume52en_HK
dc.identifier.issue3 suppl.en_HK
dc.identifier.spageS148, abstract no. 139en_HK
dc.identifier.epageS148, abstract no. 139-
dc.identifier.eissn1531-8249-
dc.identifier.issnl0364-5134-

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