Individual #00028883

ID_report -
Reference PubMed: Foley 2010, case 3 in PubMed: Dereymaeker 1986
Remarks -
Gender F
Consanguinity no
Country Belgium
Population -
Age at death >32y (later than 32 years)
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases MNS
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen


Phenotypes

Melnick-Needles syndrome (MNS) (MNS)   Add phenotype for this disease

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

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Protein     

Owner     
0000024952 see paper; born at term, birth weight 4.050 kg, pregnancy complicated by polyhydramnios; frequent respiratory infections dominated early childhood; childhood developed pes cavus, progressive limitation movement hips/knees/elbows, thoracic hypoplasia, mixed conductive and sensorineural hearing loss, cognitive function unimpaired; 32y-limited mobility, employment as office manager, frequent intercurrent respiratory infections (no stridor or fixed airway obstruction); teeth small, brittle, thin enamel; CT-scan bilateral deficiency modiolus, sclerosis incus/stapes basis hearing loss; height 143 cm; supraorbital hyperostosis, exorbitism, full eyebrows, low anterior hairline (fig. 3); ulnar deviation wrists, spatulate thumbs, chin small; thorax hypoplastic, no scoliosis, ... - - Isolated (sporadic) 32y - - - - Johan den Dunnen



Screenings


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Owner     
0000028894 DNA DHPLC;SEQ - - FLNA 1 Johan den Dunnen



Variants

1 entry on 1 page. Showing entry 1.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

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Reference     

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CpG     

Enzyme activity     

mRNA level     

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Legacy protein change     

Protein level     
X Parent #1 +/. - pathogenic g.153594941C>A g.154366573C>A - - FLNA_000105 - PubMed: Foley 2010 - - De novo - - - 0 - Johan den Dunnen FLNA - - - - 7 NM_001110556.1:c.1054G>T - r.(?) p.(Gly352Trp) - - - - - - - - - - - - - - - - - - -
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