Individual #00122371

ID_report 10757639-Fam4482
Reference PubMed: Jin 2000, PubMed: Greener 2002
Remarks 2-generation family, 3 affected brothers (12y, 14y, 17y)
Gender M
Consanguinity no
Country United Kingdom (Great Britain)
Population -
Age at death -
VIP -
Data_av -
Treatment -
Panel size 3
Diseases AHC, DMD, GKD
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2002-07-01 12:00:00 +02:00 (CEST)
Date last edited 2019-03-11 14:34:18 +01:00 (CET)


Phenotypes

dystrophy, muscular, Duchenne type (DMD) (DMD)   Add phenotype for this disease

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Owner     
0000094728 all mild myopathy with clear Becker-type course, glycerol kinase deficiency, adrenal hypoplasia; all bilateral undescended testes (surgically corrected); eldest 12y-developed epilepsy (treated successfully for 2y, seizures recently recurred; two younger boys short stature (heights below 3rd-centile, eldest in 10th-centile)all mild mental retardation, younger boys IQ 66–84 (mean 74) and IQ 64–82 (mean 72), eldest expected to perform similarly dystrophy, muscular, Duchenne type (DMD) BMD;GKD;AHC Familial, X-linked 17y - - - - Johan den Dunnen



Screenings


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Owner     
0000122839 DNA PCR;RT-PCR;SEQ - - DMD, IL1RAPL1 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

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AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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Protein level     
X Parent #1 +/. - pathogenic (recessive) g.29949219_31144301del g.29931102_31126184del - - DMD_000533 breakpoint in intron 8 IL1RAPL1 gene (antisense strand), RNA contains new 3' sequence replacing ex79 PubMed: Jin 2000, PubMed: Greener 2002, GenBank AF181286.1 - - Germline yes - - - - Johan den Dunnen DMD, GK, IL1RAPL1 - - - - 78i_, _1_21_, 8i_ NM_004006.2:c.11046+458_*1190817del, NM_001205019.1:c.-179_*2720{0}, NM_014271.3:c.1058-10549_*80{0} - r.-244_11046::[AF181286.1:r.1_369], r.0, r.? p.Asp3683Alafs*6, p.0, p.? - - - - - - - - - - - - - -
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