A novel heterozygous missense variant in ribosomal protein L21 associated with familial hypotrichosis simplex.

Rayinda, Tuntas; McSweeney, Sheila M; Fassihi, Hiva; Fenton, David; Liu, Lu; Stefanato, Catherine M; Dand, Nick; McGrath, John A; Tziotzios, Christos

Hypotrichosis 12 (HYPT12) is a form of autosomal dominant nonsyndromic hypotrichosis previously linked to a pathogenic missense variant in the I RPL21 i gene. A 44-year-old White British man presented with hair loss affecting the scalp, eyebrows, eyelashes and body (Figure 1a).

GENETIC variation; MISSENSE mutation; RIBOSOMAL proteins; ALOPECIA areata; MEDICAL genetics; CELL cycle regulation

Clinical & Experimental Dermatology, 2023, Vol 48, Issue 7, p840

0307-6938

Academic Journal

10.1093/ced/llad102