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GALNS mutations in Indian patients with mucopolysaccharidosis IVA
American journal of medical genetics. Part A, 2014-11, Vol.164A (11), p.2793-2801
Bidchol, Abdul Mueed
Dalal, Ashwin
Shah, Hitesh
S, Suryanarayana
Nampoothiri, Sheela
Kabra, Madhulika
Gupta, Neerja
Danda, Sumita
Gowrishankar, Kalpana
Phadke, Shubha R.
Kapoor, Seema
Kamate, Mahesh
Verma, I.C.
Puri, Ratna Dua
Sankar, V.H.
Devi, A. Radha Rama
Patil, S.J.
Ranganath, Prajnya
Jain, S. Jamal Md Nurul
Agarwal, Meenal
Singh, Ankur
Mishra, Pallavi
Tamhankar, Parag M.
Gopinath, Puthiya Mundyat
Nagarajaram, H.A.
Satyamoorthy, Kapaettu
Girisha, Katta Mohan
2014
Details
Autor(en) / Beteiligte
Bidchol, Abdul Mueed
Dalal, Ashwin
Shah, Hitesh
S, Suryanarayana
Nampoothiri, Sheela
Kabra, Madhulika
Gupta, Neerja
Danda, Sumita
Gowrishankar, Kalpana
Phadke, Shubha R.
Kapoor, Seema
Kamate, Mahesh
Verma, I.C.
Puri, Ratna Dua
Sankar, V.H.
Devi, A. Radha Rama
Patil, S.J.
Ranganath, Prajnya
Jain, S. Jamal Md Nurul
Agarwal, Meenal
Singh, Ankur
Mishra, Pallavi
Tamhankar, Parag M.
Gopinath, Puthiya Mundyat
Nagarajaram, H.A.
Satyamoorthy, Kapaettu
Girisha, Katta Mohan
Titel
GALNS mutations in Indian patients with mucopolysaccharidosis IVA
Ist Teil von
American journal of medical genetics. Part A, 2014-11, Vol.164A (11), p.2793-2801
Ort / Verlag
United States: Blackwell Publishing Ltd
Erscheinungsjahr
2014
Link zum Volltext
Quelle
Wiley Blackwell Single Titles
Beschreibungen/Notizen
ABSTRACT Mucopolysaccharidosis IV A (Morquio syndrome A, MPS IVA) is a lysosomal storage disease caused by the deficiency of N‐acetylgalactosamine‐6‐sulfatase (GALNS). The mutation spectrum in this condition is yet to be determined in Indians. We aimed to analyze the mutations in the GALNS gene in Asian Indians with MPS IVA. All the exons and the adjacent intronic regions of the gene were amplified and sequenced in sixty‐eight unrelated Indian families. We identified 136 mutant alleles comprising of 40 different mutations. We report twenty‐two novel mutations that comprise of seventeen missense (p.Asn32Thr, p.Leu36Arg, p.Pro52Leu, p.Pro77Ser, p.Cys79Arg, p.His142Pro, p.Tyr191Asp, p.Asn204Thr, p.Gly188Ser, p.Phe216Ser, p.Trp230Cys, p.Ala291Ser, p.Gly317Arg, p.His329Pro, p.Arg386Ser, p.Glu450Gly, p.Cys501Ser), three splice‐site variants (c.120 + 1G > C, c.1003‐3C > G, c.1139 + 1G > A), one nonsense mutation (p.Gln414*) and one frameshift mutation (p.Pro420Leufs*440). Eighteen mutations have been reported earlier. Among these p.Ser287Leu (8.82%), p.Phe216Ser (7.35%), p.Asn32Thr (6.61%) and p.Ala291Ser (5.88%) were the most frequent mutations in Indian patients but were rare in the mutational profiles reported in other populations. These results indicate that the Indian patients may have a distinct mutation spectrum compared to those of other populations. Mutant alleles in exon 1, 7 and 8 accounted for 44.8% of the mutations, and sequencing of these exons initially may be a cost‐effective approach in Asian Indian patients. This is the largest study on molecular analysis of patients with MPS IVA reported in the literature, and the first report from India. © 2014 Wiley Periodicals, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1552-4825
eISSN: 1552-4833
DOI: 10.1002/ajmg.a.36735
Titel-ID: cdi_proquest_miscellaneous_1622604889
Format
–
Schlagworte
Adolescent
,
Adult
,
Alleles
,
Amino Acid Substitution
,
Child
,
Child, Preschool
,
Chondroitinsulfatases - genetics
,
Chondroitinsulfatases - metabolism
,
Computational Biology
,
diagnosis
,
DNA Mutational Analysis
,
Enzyme Activation
,
European Continental Ancestry Group - genetics
,
Female
,
GALNS gene
,
Gene Frequency
,
Gene Order
,
genetics
,
Humans
,
India
,
Infant
,
Male
,
morquio syndrome A
,
Mucopolysaccharidosis IV - diagnosis
,
Mucopolysaccharidosis IV - genetics
,
mucopolysaccharidosis IVA
,
Mutation
,
Polymorphism, Single Nucleotide
,
Pregnancy
,
Prenatal Diagnosis
,
Young Adult
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