Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization

E. A. Lindsay, A. Grillo, G. B. Ferrero, E. J. Roth, E. Magenis, Markus Grompe, M. Hulten, C. Gould, A. Baldini, H. Y. Zoghbi, A. Ballabio

Research output: Contribution to journalArticle

82 Citations (Scopus)

Abstract

The microphthalmia with linear skin defects (MLS) syndrome (MIM 309801) is a severe developmental disorder observed in XX individuals with distal Xp segmental monosomy. The phenotype of this syndrome overlaps with that of both Aicardi (MIM 304050) and Goltz (MIM 305600) syndromes, two X-linked dominant, male-lethal disorders. Here we report the clinical, cytogenetic, and molecular characterization of 3 patients with this syndrome. Two of these patients are females with a terminal Xpter-p22.2 deletion. One of these 2 patients had an aborted fetus with anencephaly and the same chromosome abnormality. The third patient is an XX male with Xp/Yp exchange spanning the SRY gene which results in distal Xp monosomy. The extensive clinical variability observed in these patients and the results of the molecular analysis suggest that X-inactivation plays an important role in determining the phenotype of the MLS syndrome. We propose that the MLS, Aicardi, and Goltz syndromes are due to the involvement of the same gene(s), and that different patterns of X-inactivation are responsible for the phenotypic differences observed in these 3 disorders. However, we cannot rule out that each component of the MLS phenotype is caused by deletion of a different gene (a contiguous gene syndrome).

Original languageEnglish (US)
Pages (from-to)229-234
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume49
Issue number2
DOIs
StatePublished - 1994
Externally publishedYes

Fingerprint

Cytogenetics
Monosomy
X Chromosome Inactivation
Phenotype
Genes
Focal Dermal Hypoplasia
Aicardi Syndrome
Aborted Fetus
Anencephaly
Chromosome Aberrations
Syndromic 7 Microphthalmia

Keywords

  • Aicardi syndrome
  • distal Xp monosomy
  • Goltz syndrome
  • MLS
  • X chromosome
  • X-inactivation

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Microphthalmia with linear skin defects (MLS) syndrome : Clinical, cytogenetic, and molecular characterization. / Lindsay, E. A.; Grillo, A.; Ferrero, G. B.; Roth, E. J.; Magenis, E.; Grompe, Markus; Hulten, M.; Gould, C.; Baldini, A.; Zoghbi, H. Y.; Ballabio, A.

In: American Journal of Medical Genetics, Vol. 49, No. 2, 1994, p. 229-234.

Research output: Contribution to journalArticle

Lindsay, EA, Grillo, A, Ferrero, GB, Roth, EJ, Magenis, E, Grompe, M, Hulten, M, Gould, C, Baldini, A, Zoghbi, HY & Ballabio, A 1994, 'Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization', American Journal of Medical Genetics, vol. 49, no. 2, pp. 229-234. https://doi.org/10.1002/ajmg.1320490214
Lindsay, E. A. ; Grillo, A. ; Ferrero, G. B. ; Roth, E. J. ; Magenis, E. ; Grompe, Markus ; Hulten, M. ; Gould, C. ; Baldini, A. ; Zoghbi, H. Y. ; Ballabio, A. / Microphthalmia with linear skin defects (MLS) syndrome : Clinical, cytogenetic, and molecular characterization. In: American Journal of Medical Genetics. 1994 ; Vol. 49, No. 2. pp. 229-234.
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