[HTML][HTML] A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis
The Journal of investigative dermatology, 2004•ncbi.nlm.nih.gov
Localized hypotrichosis (MIM 607903) is a rare form of alopecia and is inherited in an
autosomal recessive pattern (Kljuic et al, 2003; Rafique et al, 2003). In individuals affected
with this form of hair loss, hypotrichosis is restricted to the scalp, chest, arms, and legs.
Facial hair, including the eyebrows and beard, is less dense, and axillary, pubic hair, and
eyelashes are sparse. At birth, hairs are present on the scalp, but regrow sparsely after ritual
shaving (Fig 1). Affected individuals show no growth or developmental delay, normal …
autosomal recessive pattern (Kljuic et al, 2003; Rafique et al, 2003). In individuals affected
with this form of hair loss, hypotrichosis is restricted to the scalp, chest, arms, and legs.
Facial hair, including the eyebrows and beard, is less dense, and axillary, pubic hair, and
eyelashes are sparse. At birth, hairs are present on the scalp, but regrow sparsely after ritual
shaving (Fig 1). Affected individuals show no growth or developmental delay, normal …
Localized hypotrichosis (MIM 607903) is a rare form of alopecia and is inherited in an autosomal recessive pattern (Kljuic et al, 2003; Rafique et al, 2003). In individuals affected with this form of hair loss, hypotrichosis is restricted to the scalp, chest, arms, and legs. Facial hair, including the eyebrows and beard, is less dense, and axillary, pubic hair, and eyelashes are sparse. At birth, hairs are present on the scalp, but regrow sparsely after ritual shaving (Fig 1). Affected individuals show no growth or developmental delay, normal hearing, teeth and nails, and no abnormalities in sweating. Histological analysis of scalp skin of the patient’s (Kljuic et al, 2003) revealed abnormal hair follicles and shafts, which were thin and atrophic and often appeared coiled up within the skin due to their inability to penetrate the epidermis.
We, and others (Kljuic et al, 2003; Rafique et al, 2003) recently reported a linkage in this form of hypotrichosis to chromo some 18q12. A small region of 700 kb on chromo-some 18q12. 1 contains cluster of Desmoglein (DSG1, DSG2, and DSG3) and desmocollin (DSC1, DSC2, and DSC3) genes. Both desmoglein and desmocollins are the glycoproteins of desmosomes, which are the most common type of intercellular junctions mediating cell-tocell adhesion in vertebrate epithelial cells (Townes and Behringer, 1990). Recently, Kljuic et al (2003) and Whittock and Bower (2003) reported the cloning of DSG4, a new member of desmoglein. DSG4 gene is composed of 16 exons spanning approximately 37 kb of genomic DNA and is situated between DSG1 and DSG3. The 3.6-kb human DSG4 cDNA contains an open reading frame of 3120 bp that encodes a precursor protein of 1040 amino acids. The predicted mature protein comprises 991 amino acids with a molecular weight of 107,822 Da. The human DSG4 protein shares 41% identity with human DSG1 protein, 37% with human DSG2 protein, and 50% with human DSG3 protein. The DSG4 syntenic region on mouse chromosome 18 harbors desmosomal cadherin cluster (Montagutelli et al, 1996). Recently,
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