Directly Transmitted 12.3-Mb Deletion with a Consistent Phenotype in the Variable 11q21q22.3 Region

A phenotype is emerging for the proximal pair of G-dark bands in 11q (11q14.1 and q14.3) but not yet for the distal pair (11q22.1 and q22.3). A mother and daughter with the same directly transmitted 12.3-Mb interstitial deletion of 11q21q22.3 (GRCh37: 93,551,765-105,817,723) both had initial feeding...

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Bibliographic Details
Published in:	Cytogenetic and genome research Vol. 160; no. 4; p. 185
Main Authors:	Kirk, Beth, Kharbanda, Mira, Bateman, Mark S, Hunt, David, Taylor, Emma-Jane, Collins, Amanda L, Bunyan, David J, Collinson, Morag N, Russell, Louisa M, Bowell, Sarah, Barber, John C K
Format:	Journal Article
Language:	English
Published:	Switzerland 01-07-2020
Subjects:	Abnormalities, Multiple - pathology Adaptor Proteins, Signal Transducing - genetics Chromosome Deletion Chromosomes, Human, Pair 11 - genetics Contactins - genetics Female Humans Phenotype Receptors, AMPA - genetics Transcription Factors - genetics 11q Transmitted deletion Phenotype Candidate genes
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Summary:	A phenotype is emerging for the proximal pair of G-dark bands in 11q (11q14.1 and q14.3) but not yet for the distal pair (11q22.1 and q22.3). A mother and daughter with the same directly transmitted 12.3-Mb interstitial deletion of 11q21q22.3 (GRCh37: 93,551,765-105,817,723) both had initial feeding difficulties and failure to thrive, speech delay, learning difficulties, and mild dysmorphism. Among 17 patients with overlapping deletions, developmental or speech delay, dysmorphism, hypotonia, intellectual disability or learning difficulties, short stature, and coloboma were each found in 2 or more. These results may provide the basis for a consistent phenotype for this region. Among the 53 deleted and additional breakpoint genes, CNTN5, YAP1, and GRI4 were the most likely candidates. Non-penetrance of haploinsufficient genes and dosage compensation among related genes may account for the normal cognition in the mother and variable phenotypes that can extend into the normal range.
ISSN:	1424-859X
DOI:	10.1159/000507409