Chromosome Breakage Disorders

Gene: MPLKIP

Green List (high evidence)

Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections.

Gene previously known as c7orf11.

More than 5 unrelated families reported.

Created: 22 Apr 2021, 11:11 p.m. | Last Modified: 22 Apr 2021, 11:11 p.m.

Panel Version: 0.127

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Trichothiodystrophy 4, nonphotosensitive, MIM# 234050; MONDO:0021013

Publications

• 15645389
• 16977596