Microphthalmia with linear skin defects syndrome
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Microphthalmia with linear skin defects syndrome is a disorder that mainly affects females. In people with this condition, one or both eyes may be very small or poorly developed (microphthalmia). Affected individuals also typically have unusual linear skin markings on the head and neck. These markings follow the paths along which cells migrate as the skin develops before birth (lines of Blaschko). The skin defects generally improve over time and leave variable degrees of scarring.
Descrizione
Microphthalmia with linear skin defects syndrome is a disorder that mainly affects females. In people with this condition, one or both eyes may be very small or poorly developed (microphthalmia). Affected individuals also typically have unusual linear skin markings on the head and neck. These markings follow the paths along which cells migrate as the skin develops before birth (lines of Blaschko). The skin defects generally improve over time and leave variable degrees of scarring.
The signs and symptoms of microphthalmia with linear skin defects syndrome vary widely, even among affected individuals within the same family. In addition to the characteristic eye problems and skin markings, this condition can cause abnormalities in the brain, heart, and genitourinary system. A hole in the muscle that separates the abdomen from the chest cavity (the diaphragm), which is called a diaphragmatic hernia, may occur in people with this disorder. Affected individuals may also have short stature and fingernails and toenails that do not grow normally (nail dystrophy).
Modelli di ereditarietà
The source lists the following possible inheritance patterns: X-linked dominant. More than one pattern can apply in different cases.
Related genes
Altri nomi
MCOPS7
Microphthalmia syndromic 7
Microphthalmia with linear skin lesions syndrome
Microphthalmia, dermal aplasia, and sclerocornea
Microphthalmia, syndromic 7
MIDAS syndrome
MLS syndrome
Syndromic microphthalmia-7
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Ulteriori letture e riferimenti
- Microphthalmia with linear skin defects syndrome; MedlinePlus, National Library of Medicine.
- D'Alessio AM, Indrieri A, Vitiello G, Morleo M, Schelley S, Enns GM, Passarelli C, Tammaro R, Tiranti V, Peron C, Deb W, Novelli A, Isidor B, Iolascon A, Franco B. Revisiting LSDMCA: male lethality escape and genotype-phenotype correlations. Eur J Hum Genet. 2026 Jul;34(7):972-979. doi: 10.1038/s41431-026-02098-7. Epub 2026 Apr 21.
- Indrieri A, Conte I, Chesi G, Romano A, Quartararo J, Tate R, Ghezzi D, Zeviani M, Goffrini P, Ferrero I, Bovolenta P, Franco B. The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes. EMBO Mol Med. 2013 Feb;5(2):280-93. doi: 10.1002/emmm.201201739. Epub 2013 Jan 22.
- Indrieri A, Franco B. Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder. Genes (Basel). 2021 Feb 11;12(2):263. doi: 10.3390/genes12020263.
- Indrieri A, van Rahden VA, Tiranti V, Morleo M, Iaconis D, Tammaro R, D'Amato I, Conte I, Maystadt I, Demuth S, Zvulunov A, Kutsche K, Zeviani M, Franco B. Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease. Am J Hum Genet. 2012 Nov 2;91(5):942-9. doi: 10.1016/j.ajhg.2012.09.016.
- Morleo M, Franco B. Microphthalmia with Linear Skin Defects Syndrome. 2009 Jun 18 [updated 2018 Jul 26]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK7041/
- Morleo M, Pramparo T, Perone L, Gregato G, Le Caignec C, Mueller RF, Ogata T, Raas-Rothschild A, de Blois MC, Wilson LC, Zaidman G, Zuffardi O, Ballabio A, Franco B. Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases. Am J Med Genet A. 2005 Aug 30;137(2):190-8. doi: 10.1002/ajmg.a.30864.
- Prakash SK, Cormier TA, McCall AE, Garcia JJ, Sierra R, Haupt B, Zoghbi HY, Van Den Veyver IB. Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome. Hum Mol Genet. 2002 Dec 1;11(25):3237-48. doi: 10.1093/hmg/11.25.3237.
- Reis LM, Basel D, Bitoun P, Walton DS, Glaser T, Semina EV. Novel Intragenic and Genomic Variants Highlight the Phenotypic Variability in HCCS-Related Disease. Genes (Basel). 2024 Dec 20;15(12):1636. doi: 10.3390/genes15121636.
- van Rahden VA, Fernandez-Vizarra E, Alawi M, Brand K, Fellmann F, Horn D, Zeviani M, Kutsche K. Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome. Am J Hum Genet. 2015 Apr 2;96(4):640-50. doi: 10.1016/j.ajhg.2015.02.002. Epub 2015 Mar 12.
- van Rahden VA, Rau I, Fuchs S, Kosyna FK, de Almeida HL Jr, Fryssira H, Isidor B, Jauch A, Joubert M, Lachmeijer AM, Zweier C, Moog U, Kutsche K. Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome. Orphanet J Rare Dis. 2014 Apr 15;9:53. doi: 10.1186/1750-1172-9-53.
- Wimplinger I, Morleo M, Rosenberger G, Iaconis D, Orth U, Meinecke P, Lerer I, Ballabio A, Gal A, Franco B, Kutsche K. Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome. Am J Hum Genet. 2006 Nov;79(5):878-89. doi: 10.1086/508474. Epub 2006 Sep 6.
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