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Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails

Overview of attention for article published in Journal of Human Genetics, December 2016
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Title
Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails
Published in
Journal of Human Genetics, December 2016
DOI 10.1038/jhg.2016.151
Pubmed ID
Authors

Ariana Kariminejad, Norbert Fonya Ajeawung, Bita Bozorgmehr, Alexandre Dionne-Laporte, Sirinart Molidperee, Kimia Najafi, Richard A Gibbs, Brendan H Lee, Raoul C Hennekam, Philippe M Campeau

Abstract

Kaufman oculo-cerebro-facial syndrome (KOS) is caused by recessive UBE3B mutations and presents with microcephaly, ocular abnormalities, distinctive facial morphology, low cholesterol levels and intellectual disability. We describe a child with microcephaly, brachycephaly, hearing loss, ptosis, blepharophimosis, hypertelorism, cleft palate, multiple renal cysts, absent nails, small or absent terminal phalanges, absent speech and intellectual disability. Syndromes that were initially considered include DOORS syndrome, Coffin-Siris syndrome and Dubowitz syndrome. Clinical investigations coupled with karyotype analysis, array-comparative genomic hybridization, exome and Sanger sequencing were performed to characterize the condition in this child. Sanger sequencing was negative for the DOORS syndrome gene TBC1D24 but exome sequencing identified a homozygous deletion in UBE3B (NM_183415:c.3139_3141del, p.1047_1047del) located within the terminal portion of the HECT domain. This finding coupled with the presence of characteristic features such as brachycephaly, ptosis, blepharophimosis, hypertelorism, short palpebral fissures, cleft palate and developmental delay allowed us to make a diagnosis of KOS. In conclusion, our findings highlight the importance of considering KOS as a differential diagnosis for patients under evaluation for DOORS syndrome and expand the phenotype of KOS to include small or absent terminal phalanges, nails, and the presence of hallux varus and multicystic dysplastic kidneys.Journal of Human Genetics advance online publication, 22 December 2016; doi:10.1038/jhg.2016.151.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 34 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 1 3%
Unknown 33 97%

Demographic breakdown

Readers by professional status Count As %
Researcher 10 29%
Student > Ph. D. Student 5 15%
Student > Bachelor 3 9%
Student > Doctoral Student 3 9%
Other 1 3%
Other 2 6%
Unknown 10 29%
Readers by discipline Count As %
Medicine and Dentistry 9 26%
Nursing and Health Professions 3 9%
Biochemistry, Genetics and Molecular Biology 2 6%
Neuroscience 2 6%
Agricultural and Biological Sciences 1 3%
Other 5 15%
Unknown 12 35%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 27 March 2017.
All research outputs
#20,411,380
of 22,961,203 outputs
Outputs from Journal of Human Genetics
#1,533
of 1,662 outputs
Outputs of similar age
#355,562
of 421,130 outputs
Outputs of similar age from Journal of Human Genetics
#24
of 29 outputs
Altmetric has tracked 22,961,203 research outputs across all sources so far. This one is in the 1st percentile – i.e., 1% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,662 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.5. This one is in the 1st percentile – i.e., 1% of its peers scored the same or lower than it.
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We're also able to compare this research output to 29 others from the same source and published within six weeks on either side of this one. This one is in the 1st percentile – i.e., 1% of its contemporaries scored the same or lower than it.