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The B4GALT7 mutation data have been added to a new database.

LOVD - Variant listings for B4GALT7

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+/+ 02 c.122T>C
    + c.808C>T
- Substitution Missense p.(Leu41Pro) - - - B4GALT7_00004 Progeroid EDS Guo et al., 2013 DNA PCR, SEQ - -
+?/+? 02 c.122T>C
    + c.808C>T
- Substitution Missense p.(Leu41Pro) - - - B4GALT7_00004 Progeroid EDS Guo et al., 2013 DNA SEQ, WES The patient was diagnosed with Progeroid EDS, with the authors arguing for the reclassification of Progeroid EDS due to its initial focus on progeroid features in patients that were not sequenced. The patient meets all the major criteria and 3/5 minor criteria for spEDS as described in the 2017 classification. This patient was later described in Guo et al., 2014 as Patient P02. -
+/+ 02 c.277dupC
    + c.628C>T
- Duplication Frameshift p.His93Profs*73 - - - B4GALT7_00005 Patient 1 Progeroid EDS Caraffi et al., 2019 DNA CNGP, PCR, SEQ The patient was compound heterozygous for two variants. -
+/+ 02 c.277dupC
    + c.641G>A
- Duplication Frameshift p.His93Profs*73 - - - B4GALT7_00005 Patient 1 LRS Salter et al., 2016 DNA SEQ, WES The authors argued that this patient lies on the spectrum of Larson of Reunion Island Syndrome. It is important to note that the patient fulfils all the major criteria and 4/5 minor criteria for spEDS in the 2017 classification. -
+?/- 02 c.319G>C
    + c.614T>C
- Substitution Missense p.Glu107Gln - - - B4GALT7_00012 Patient 24 Intellectual disability Wang et al., 2020 DNA CNGP, WGS The variants were detected by medical exome sequencing of 95 patients with clinical manifestations of intellectual disability. -
+/+? 02 c.398A>G
    + c.808C>T
- Substitution Missense p.Gln133Arg - - - B4GALT7_00011 spEDS Mosher et al., 2019 DNA CNGP, SEQ, WES The patient displayed characteristics of spEDS and skeletal dysplasia. They were the only live born child out of three pregnancies from healthy parents. The other pregnancies displayed cystic hygroma and resulted in spontaneous abortion. -
+?/+? 03 c.421C>T
    + c.808C>T
- Substitution Missense p.Arg141Trp - - - B4GALT7_00010 Patient 2 LRS Salter et al., 2016 DNA SEQ, WES The authors argued that this patient lies on the spectrum of Larson of Reunion Island Syndrome. It is important to note that the patient fulfils all the major criteria and 3/5 minor criteria for spEDS in the 2017 classification -
+/+? 03 c.421C>T
    + c.808C>T
- Substitution Missense p.Arg141Trp - - - B4GALT7_00010 spEDS Sandler-Wilson et al., 2019 DNA SEQ, WES The patient had a female sibling who also carried both variants and was diagnosed with spEDS. Partly French
+/+ 03 c.557C>A
    + c.617T>C
- Substitution Missense p.(Ala186Asp) - - - B4GALT7_00001 Progeroid EDS Okajima et al., 1999 Almeida et al., 1999 DNA PCR, SEQ This patient was previously described by Kresse et al., 1987 and Quentin et al., 1990; and subsequently described by Furukawa and Okajima, 2002 and Gotte et al., 2005. Danish
-/- 03 c.614T>C
    + c.319G>C
- Substitution Missense p.Leu205Pro - - - B4GALT7_00013 Patient 24 Intellectual disability Wang et al., 2020 DNA CNGP, WGS The variants were detected by medical exome sequencing of 95 patients with clinical manifestations of intellectual disability. -
+/+ 03 c.617T>C
    + c.557C>A
- Substitution Missense p.(Leu206Pro) - - - B4GALT7_00002 Progeroid EDS Okajima et al., 1999 Almeida et al., 1999 DNA PCR, SEQ This patient was previously described by Kresse et al., 1987 and Quentin et al., 1990; and subsequently described by Furukawa and Okajima, 2002 and Gotte et al., 2005. Danish
+/+? 03 c.628C>T
    + c.277dupC
- Substitution Missense p.His210Tyr - - - B4GALT7_00006 Patient 1 Progeroid EDS Caraffi et al., 2019 DNA CNGP, PCR, SEQ The patient was compound heterozygous for two variants. -
+/+? 04 c.641G>A
    + c.277dupC
- Substitution Missense p.Cys214Tyr - - - B4GALT7_00009 Patient 1 LRS Salter et al., 2016 DNA SEQ, WES The authors argued that this patient lies on the spectrum of Larson of Reunion Island Syndrome. It is important to note that the patient fulfils all the major criteria and 4/5 minor criteria for spEDS in the 2017 classification. -
+/+ 05 c.808C>T
    + c.808C>T
dbSNP Substitution Missense p.(Arg270Cys) - - - B4GALT7_00003 Patient 1 Progeroid EDS Faiyaz-Ul-Haque et al., 2004 DNA PCR, SEQ The parents of this patient are first cousins. This patient's paternal uncle is also affected by Progeroid EDS and harbours the same two variants. This patient was subsequently described by Walker et al., 2004 and by Seidler et al., 2006. Qatari
+/+ 05 c.808C>T
    + c.122T>C
dbSNP Substitution Missense p.(Arg270Cys) - - - B4GALT7_00003 Progeroid EDS Guo et al., 2013 DNA PCR, SEQ - -
+/+ 05 c.808C>T
    + c.808C>T
dbSNP Substitution Missense p.(Arg270Cys) - - - B4GALT7_00003 LRS Cartault et al., 2014 DNA PCR, SEQ The authors describe 22 cases displaying symptoms of Larson of Reunion Island syndrome each of whom is homzygous for the same variant. They estimate the mutant allele frequency to be 0.02 in the white creole ethnic group. White Creole
+?/+? 05 c.808C>T
    + c.421C>T
dbSNP Substitution Missense p.(Arg270Cys) - - - B4GALT7_00003 Patient 2 LRS Salter et al., 2016 DNA SEQ, WES The authors argued that this patient lies on the spectrum of Larson of Reunion Island Syndrome. It is important to note that the patient fulfils all the major criteria and 3/5 minor criteria for spEDS in the 2017 classification -
+/+ 05 c.808C>T
    + c.122T>C
dbSNP Substitution Missense p.(Arg270Cys) - - - B4GALT7_00003 Progeroid EDS Guo et al., 2013 DNA SEQ, WES The patient was diagnosed with Progeroid EDS, with the authors arguing for the reclassification of Progeroid EDS due to its initial focus on progeroid features in patients that were not sequenced. The patient meets all the major criteria and 3/5 minor criteria for spEDS as described in the 2017 classification. This patient was later described in Guo et al., 2014 as Patient P02. -
+/+? 05 c.808C>T
    + c.421C>T
dbSNP Substitution Missense p.(Arg270Cys) - - - B4GALT7_00003 spEDS Sandler-Wilson et al., 2019 DNA SEQ, WES The patient had a female sibling who also carried both variants and was diagnosed with spEDS. Partly French
+/+ 05 c.808C>T
    + c.398A>G
dbSNP Substitution Missense p.(Arg270Cys) - - - B4GALT7_00003 spEDS Mosher et al., 2019 DNA CNGP, SEQ, WES The patient displayed characteristics of spEDS and skeletal dysplasia. They were the only live born child out of three pregnancies from healthy parents. The other pregnancies displayed cystic hygroma and resulted in spontaneous abortion. -
+/+ 06 c.829G>T
    + c.829G>T
- Substitution Nonsense p.Glu277* - - - B4GALT7_00007 spEDS Ritelli et al., 2017 DNA SEQ The patient's parents and younger sister were healthy heterozygote carriers. Sanger sequencing of an RT-PCR on RNA from patient's whole blood showed multiple splice products resulting in different amounts of truncated p.Glu277*, p.Glu276_Glu277ins11*, and p.Glu277del. Moroccan
+/+? 06 c.970T>A
    + c.970T>A
- Substitution Missense p.Cys324Ser - - - B4GALT7_00008 - Arunrut et al., 2016 DNA WES The patient had classic signs of linkeropathies, joint hyperextensibility, soft skin, scoliosis, developmental delays, but also had uncommon ocular findings of corneal clouding, cataracts and colobomas. -
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Legend: [ B4GALT7 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. dbSNP: dbSNP Type: Type of variant at DNA level. Mutation Effect: Mutation effect at protein or RNA level. Protein: Variation at protein level. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency if variant is non pathogenic. B4GALT7 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Patient ID: Internal reference to the patient. Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. Ethnic origin: Ethnic origin of patient