Article
Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities.
European journal of human genetics : EJHG - 1 Sept 2017
Herebian Diran, Alhaddad Bader, Seibt Annette, Schwarzmayr Thomas, Danhauser Katharina, Klee Dirk, Harmsen Stefani, Meitinger Thomas, Strom Tim M, Schulz Ansgar, Mayatepek Ertan, Haack Tobias B, Distelmaier Felix
Abstract excerpt
Coexistence of different hereditary diseases is a known phenomenon in populations with a high consanguinity rate. The resulting clinical phenotypes are extremely challenging for physicians involved in the care of these patients. Here we describe a 6-year-old boy with co-occurrence of a homozygous splice defect in OSTM1, causing infantile malignant osteopetrosis, and a loss-of-function variant in MANEAL, which has...
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