OMIM Entry ACNE INVERSA FAMILIAL 3 ACNINV3

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OMIM Entry – # 613737 – ACNE INVERSA, FAMILIAL, 3; ACNINV3

A number sign (#) is used with this entry because familial acne inversa-3 (ACNINV3) is caused by heterozygous mutation in the PSEN1 gene ( 104311 ) on chromosome 14q24.3. Heterozygous mutation in the PSEN1 gene can also result in early-onset Alzheimer disease ( 607822 ).

Description

Acne inversa is a chronic inflammatory disease of the hair follicles whose characteristic features include draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. Familial acne inversa is genetically heterogeneous (summary by Wang et al., 2010 ). For a general phenotypeic description and a discussion of genetic heterogeneity of familial acne inversa, see 142690 .

Molecular Genetics

In a 3-generation Chinese family segregating autosomal dominant acne inversa, Wang et al. (2010) identified heterozygosity for a frameshift mutation in the PSEN1 gene in affected individuals ( 104311.0038 ). Wang et al. (2010) noted that all Alzheimer disease/dementia-causing PSEN mutations reported to that time had been missense mutations or in-frame deletions or insertions. No affected individual 50 years old or older had symptoms of Alzheimer disease or dementias.

Source: http://www.omim.org/entry/613737

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