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A mosaic form of microphthalmia with linear skin defects
BACKGROUND: 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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6090767/ https://www.ncbi.nlm.nih.gov/pubmed/30068298 http://dx.doi.org/10.1186/s12887-018-1234-4 |
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author | Prepeluh, Nina Korpar, Bojan Zagorac, Andreja Zagradišnik, Boris Golub, Andreja Kokalj Vokač, Nadja |
author_facet | Prepeluh, Nina Korpar, Bojan Zagorac, Andreja Zagradišnik, Boris Golub, Andreja Kokalj Vokač, Nadja |
author_sort | Prepeluh, Nina |
collection | PubMed |
description | BACKGROUND: 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. CASE PRESENTATION: 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]). CONCLUSIONS: 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. |
format | Online Article Text |
id | pubmed-6090767 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-60907672018-08-17 A mosaic form of microphthalmia with linear skin defects Prepeluh, Nina Korpar, Bojan Zagorac, Andreja Zagradišnik, Boris Golub, Andreja Kokalj Vokač, Nadja BMC Pediatr Case Report BACKGROUND: 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. CASE PRESENTATION: 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]). CONCLUSIONS: 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. BioMed Central 2018-08-01 /pmc/articles/PMC6090767/ /pubmed/30068298 http://dx.doi.org/10.1186/s12887-018-1234-4 Text en © The Author(s). 2018 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Case Report Prepeluh, Nina Korpar, Bojan Zagorac, Andreja Zagradišnik, Boris Golub, Andreja Kokalj Vokač, Nadja A mosaic form of microphthalmia with linear skin defects |
title | A mosaic form of microphthalmia with linear skin defects |
title_full | A mosaic form of microphthalmia with linear skin defects |
title_fullStr | A mosaic form of microphthalmia with linear skin defects |
title_full_unstemmed | A mosaic form of microphthalmia with linear skin defects |
title_short | A mosaic form of microphthalmia with linear skin defects |
title_sort | mosaic form of microphthalmia with linear skin defects |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6090767/ https://www.ncbi.nlm.nih.gov/pubmed/30068298 http://dx.doi.org/10.1186/s12887-018-1234-4 |
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