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A mosaic form of microphthalmia with linear skin defects

Overview of attention for article published in BMC Pediatrics, August 2018
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Title
A mosaic form of microphthalmia with linear skin defects
Published in
BMC Pediatrics, August 2018
DOI 10.1186/s12887-018-1234-4
Pubmed ID
Authors

Nina Prepeluh, Bojan Korpar, Andreja Zagorac, Boris Zagradišnik, Andreja Golub, Nadja Kokalj Vokač

Abstract

Microphthalmia with linear skin defects (MLS) syndrome is a rare neurodevelopmental X-dominant disorder. It presents in females as it is normally lethal in males. Three causative genes for MLS syndrome (OMIM 309801) have been identified all taking part in mitochondrial respiratory chain and oxidative phosphorylation. In our case, we describe a newborn with mosaic deletion encompassing HCCS gene resulting in unilateral microphthalmia and facial skin lesions. A girl was born with caesarean section at 40 weeks of gestation. Clinical findings revealed anophthalmia of the left eye. The left eyelids were intact, the orbit was empty and the right eye was normal, without any abnormalities. She had typical linear skin defects on the left cheek, one on the left side of the neck, and two on the 3th and 4th fingers of the left hand. The other clinical findings and the neurological exam were normal. US of the brain and EEG were normal. Molecular karyotyping using BlueGnome CytoChip Oligo 4× 180K array was performed detecting an approximately 18% mosaic 3.3 Mb deletion (arr[GRCh37] Xp22.31p22.2(8,622,553_11,887,361)× 1[0.18]). FISH using RPCI11-768H20 BAC clone on cultivated interphase and metaphase lymphocytes was used to confirm the array results. The observed deletion was present in 29% of cells (46,XX,ish del(p22.2p22.31)(RPCI11-768H20)[60/205]). In this report we present a female proband with MLS syndrome. To our knowledge, there have been only few other cases of mosaic MLS syndrome described in the literature. Our case shows that low grade mosaicism does not preclude full clinical presentation and further supports the critical role of the X inactivation pattern in the development of the clinical findings.

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Mendeley readers

The data shown below were compiled from readership statistics for 3 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 3 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 1 33%
Other 1 33%
Student > Master 1 33%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 2 67%
Medicine and Dentistry 1 33%

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 03 August 2018.
All research outputs
#11,822,498
of 13,325,587 outputs
Outputs from BMC Pediatrics
#1,426
of 1,622 outputs
Outputs of similar age
#232,584
of 268,934 outputs
Outputs of similar age from BMC Pediatrics
#1
of 1 outputs
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