Keratitis-ichthyosis-deafness syndrome with lethal p.Ala88Val variant and severe hypercalcemia.

Autor: López-Sundh AE; Department of Dermatology, Hospital Universitario Marqués de Valdecilla, Santander, Spain., Escribano-Palomino E; Department of Neonatology, Hospital Universitario La Paz, Madrid, Spain., Feito-Rodríguez M; Department of Dermatology, Hospital Universitario La Paz, Madrid, Spain., Tenorio J; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Institute of Medical and Molecular Genetics (INGEMM)-IdiPAZ, Hospital Universitario La Paz-UAMs, Madrid, Spain.; ITHACA, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability, Paris, France., Brizzi ME; Department of Pathology, Hospital Universitario La Paz, Madrid, Spain., Krasnovska Zayets K; Department of Dermatology, Hospital Universitario La Paz, Madrid, Spain., Servera-Negra G; Department of Dermatology, Hospital Universitario La Paz, Madrid, Spain., de Lucas-Laguna R; Department of Dermatology, Hospital Universitario La Paz, Madrid, Spain.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Jan; Vol. 191 (1), pp. 253-258. Date of Electronic Publication: 2022 Oct 26.
DOI: 10.1002/ajmg.a.63005
Abstrakt: Keratitis-ichthyosis-deafness (KID) syndrome is a rare genetic disease caused by pathogenic variants in connexin 26 (gene GJB2), which is part of the transmembrane channels of the epithelia. Connexin 26 is expressed mainly in the cornea, the sensory epithelium of the inner ear, and in the skin keratinocytes, which are the three main target organs in KID syndrome. Approximately a dozen pathogenic variants have been described to date, including some lethal forms. Patients with lethal pathogenic variants present with severe symptoms from birth and die from sepsis during the first year of life. We present a premature female patient with KID syndrome carrying the lethal p.Ala88Val pathogenic variant in GJB2. In addition to the respiratory distress associated with this variant, our patient presented severe hypercalcemia of unexplained origin refractory to treatment. This abnormality has not been reported earlier in other patients with KID syndrome with the same variant.
(© 2022 Wiley Periodicals LLC.)
Databáze: MEDLINE
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