Identification of a Novel Locus for Marie Unna Hereditary Hypotrichosis to a 17.5 cM Interval at 1p21.1–1q21.3

Abstract

Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant disorder characterized by coarse, wiry, twisted hair developed in early childhood and followed by the development of alopecia. A locus for this disorder was localized to chromosome 8p, but no gene responsible for it has been identified. To map and determine whether MUHH is a genetically heterogeneous disorder and identify the disease gene locus in a four-generation Chinese family with MUHH. We performed a genome-wide scan in this family. Two-point linkage analysis was performed using Linkage programs version 5.10 software and haplotype was constructed with Cyrillic Version 2.02 software. We failed to confirm the previous locus for MUHH at chromosome 8p and obtained the conformed evidence for linkage at chromosome 1. Two-point logarithm of odds ratio scores > or =3 were observed at markers D1S2746 and D1S2881. Haplotype analysis localized this locus to a 42 Mb region. The previous results and this study have shown that MUHH is a genetically heterogeneous disorder. Our family was mapped to a 17.5 cM region between markers D1S248 and D1S2345.

Milia: A review and classification

“…MUS has also been mapped to chromosome 1, suggesting genetic heterogeneity. 144 Anhidrotic ectodermal dysplasia (Christ-SiemensTouraine, OMIM 305100) is characterized by anhidrosis, anodontia, and hypotrichosis. Inheritance is usually X-linked recessive (Ectodysplasin-A mutations) but may be autosomal dominant (Ectodysplasin-A1 receptor/EDAR mutations, OMIM 129490) or recessive (EDAR or EDARADD mutations, OMIM 224900).…”

The genetics of hair shaft disorders

“…Genetic heterogeneity likely exists based on recent studies linking MUH in a Chinese family to chromosome 1p21.1-1q21.3. 278 A recently described entity, ''progressive patterned scalp hypotrichosis,'' was found to have curly hair and a similar pattern of hair loss, but is distinct from MUH in several ways. A family of 22 members demonstrated progressive patterned scalp hypotrichosis with wiry/curly hair, onycholysis, and associated cleft lip and palate.…”

Genetik der monogenen isolierten Alopezien

“…Ein weiterer Genort für die MUHH wurde für eine chinesische Familie auf Chromosom 1p21.1-1q21.3 beschrieben [20], ein Gen wurde bislang nicht identifiziert.…”