Marie Unna hereditary hypotrichosis: Identification of a U2HR mutation in the family from the original 1925 report

Redler, Silke; Kruse, Roland; Eigelshoven, Sibylle; Hanneken, S.; Refke, Melanie; Wen, Yaran; Zhang, Xue; Cichon, Sven; Betz, Regina C.; Nöthen, Markus M.

doi:10.1016/j.jaad.2010.06.013

Cited by 14 publications

(11 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…We certainly agree that genetic testing to confirm the diagnosis of Marie‐Unna Hereditary Hypotrichosis (MUHH) would have been useful in confirming our patient’s diagnosis, but clinical genetic testing was not available at the time of presentation and is currently available only for research purposes (1). Undoubtedly, a large amount of clinical overlap exists between the various causes of hereditary isolated alopecia, including MUHH, hypotrichosis simplex, autosomal‐recessive localized hypotrichosis, and congenital atrichia, but we felt that our patient’s clinical presentation was most consistent with previously reported cases of MUHH available in the literature.…”

mentioning

confidence: 75%

Marie‐Unna Hereditary Hypotrichosis: Case Report and Review of the Literature

Podjasek¹,

Hand²

2011

Pediatric Dermatology

View full text Add to dashboard Cite

mentioning

confidence: 75%

Marie‐Unna Hereditary Hypotrichosis: Case Report and Review of the Literature

Podjasek¹,

Hand²

2011

Pediatric Dermatology

View full text Add to dashboard Cite

“…After failing to find disease‐causing variants in the human hairless ( HR ) gene, four upstream open reading frames (ORFs) in the 5′ untranslated region (UTR) of the HR designated as U1HR , U2HR , U3HR and U4HR were screened in several families. Sixteen distinct heterozygous mutations in the U2HR of the HR gene in these families segregating HYPT4 from different ancestral groups have been reported to date (Table S). U2HR , specifies a highly conserved peptide of 34 amino acids, is an inhibitory upstream ORF in the 5′ UTR of the HR gene.…”

Section: Autosomal Dominant Forms Of Hereditary Hair Loss Disordersmentioning

confidence: 99%

Genetics of human isolated hereditary hair loss disorders

2014

View full text Add to dashboard Cite

Hereditary hair loss in human is a group of clinically and genetically heterogeneous disorders. It is characterized by sparse to complete absence of hair on the scalp and other parts of the body. In few cases tightly curled twisted wooly hair (WH) on the scalp has been reported as well. The hair loss disorders, including both syndromic and non-syndromic (isolated) forms, segregate either in autosomal dominant or autosomal recessive pattern. To date, seven autosomal dominant and equal numbers of autosomal recessive isolated forms of hair loss disorders have been characterized. Genes responsible for causing most of these disorders have been identified. In this review, we have provided an update on clinical and genetic aspects of isolated hereditary hair loss disorders manifesting with hypotrichosis and/or WHs. Because most of the recessive genes have been mapped using consanguineous families of Pakistani origin, therefore emphasis is given to mutations identified in these families. OMIM nomenclature has been followed to indicate different forms of hair loss disorders.

show abstract

“…In 2009, Wen et al discovered that the culprit gene behind the rare MUHH is U2HR, the second upstream open reading frame in the 5′UTR of HR gene (41). So far, all the reported mutations in U2HR are single nucleotide substitutions (41,(44)(45)(46)(47)(48)(49)(50).…”

Section: Marie Unna Hereditary Hypotrichosismentioning

confidence: 99%

Nucleic acid‐based non‐invasive prenatal diagnosis of genetic skin diseases: are we ready?

Gong

Wen

2013

Experimental Dermatology

Self Cite

View full text Add to dashboard Cite

The discovery of circulating fetal nucleic acids is a great step on the way of developing non-invasive prenatal diagnosis (NIPD) for genetic disorders. Here, we briefly discuss the current applications of circulating fetal nucleic acids in genetic testing for different kinds of hereditary diseases with an emphasis on using circulating cell-free fetal DNA in diagnosis of monogenic disorders. As the genetic skin disorders impair the quality of life at different levels, we next discuss some ethical issues in NIPD for genetic skin diseases of various severities and in particular, the responsibility of doctors and parents, respectively, in the prenatal genetic testing.

show abstract

Marie Unna hereditary hypotrichosis: Identification of a U2HR mutation in the family from the original 1925 report

Cited by 14 publications

References 16 publications

Marie‐Unna Hereditary Hypotrichosis: Case Report and Review of the Literature

Marie‐Unna Hereditary Hypotrichosis: Case Report and Review of the Literature

Genetics of human isolated hereditary hair loss disorders

Nucleic acid‐based non‐invasive prenatal diagnosis of genetic skin diseases: are we ready?

Contact Info

Product

Resources

About