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Published on: August 28, 2014
A mosaic form of microphthalmia with linear skin defects
Nina Prepeluh1, Bojan Korpar2, Andreja Zagorac1
1Laboratory of Medical Genetics, University Medical Centre Maribor, Ljubljanska 5, 2000, Maribor, Slovenia.
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.
Insights
Microphthalmia with linear skin defects (MLS) syndrome, a rare X-dominant disorder, was observed in a female newborn with a mosaic deletion of the HCCS gene. This genetic finding explains her unilateral anophthalmia and facial skin lesions, highlighting mosaicism
Area of Science:
- Genetics
- Developmental Biology
- Ophthalmology
Background:
- Microphthalmia with linear skin defects (MLS) syndrome is a rare X-dominant neurodevelopmental disorder.
- Typically lethal in males, it presents in females with ocular and skin abnormalities.
- Causative genes are linked to mitochondrial respiratory chain function and oxidative phosphorylation.
Observation:
- A female neonate presented with unilateral anophthalmia and characteristic linear skin defects on the face, neck, and hand.
- Molecular karyotyping revealed a mosaic deletion encompassing the HCCS gene on the X chromosome.
- Fluorescence in situ hybridization (FISH) confirmed the approximately 18% mosaic deletion in lymphocytes.
Findings:
- The identified mosaic deletion in the HCCS gene is associated with MLS syndrome.
- Despite low-grade mosaicism, the patient exhibited a full clinical presentation.
- This case underscores the critical role of X-inactivation patterns in MLS syndrome manifestation.
Implications:
- This case expands the understanding of MLS syndrome genetics and presentation.
- It highlights that significant clinical features can occur even with low-level mosaicism.
- Further research into X-inactivation is crucial for predicting MLS syndrome severity.
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