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. 2024 Sep 25;6(5):fcae330.
doi: 10.1093/braincomms/fcae330. eCollection 2024.

FILIP1-associated neuromuscular disorder and phenotypic blending due to paternal UPD6

Laura M Watts  1   2 , David J Bunyan  3 , Edoardo Giacopuzzi  4 , Susan Walker  5 , Gabriella Gazdagh  6 , N Simon Thomas  3 , Volker Straub  7 , Anne-Marie Childs  8 , Joan Forsyth  9 , Julie Vogt  10 , Shagufta Khan  10 , Tracey A Willis  11 , Jenny C Taylor  1 , Alistair T Pagnamenta  1   12
Affiliations

FILIP1-associated neuromuscular disorder and phenotypic blending due to paternal UPD6

Laura M Watts et al. Brain Commun. .
No abstract available

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Conflict of interest statement

The authors report no competing interests.

Figures

Figure 1
Figure 1
Differential ROH analysis in our two families identifies biallelic variants in FILIP1. (A) Exploratory ROH analysis in patients from the 100k Genomes Project identified three likely cases of UPD involving chromosomes 1, 4, and 6 where a single large ROH region was detected. (B) Plots of ROH in descending size order by chromosome in Families 1 and 2. Family 1 has a single large ROH due to UPD6, whereas Family 2 has multiple ROH on different chromosomes, in keeping with consanguinity.
Figure 2
Figure 2
Photos of individuals from families 1 and 3. Pictures of the proband from Family 1 show (A) webbing of the fingers, camptodactyly and digital contractures, (B) pectus carinatum and (C) narrow chest with neck webbing. For Family 3, pictures show fifth finger contractures (D) for the father and (E) for the proband. (F) The proband in F3 also has slightly flat feet.
See this image and copyright information in PMC

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