Identification of a genetic defect in the hairless gene in atrichia with papular lesions: evidence for phenotypic heterogeneity among inherited atrichias

Article Abstract:

Evidence for phenotypic heterogeneity exists in inherited atrichias. Atrichia with papular lesions (APL) is transmitted as an autosomal recessive trait in a sizeable inbred kindred of Israeli-Arab origin. The APL locus 3 was mapped to a 5-cM region of chromosome 8p12. The coding sequence of the human 'hairless' gene has been compared by reverse transcription. The region putatively is involved in the transcription factor activity of the hairless gene product. There are different roles for regions mutated in APL and other forms of congenital atrichia in hair development.

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A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis

Article Abstract:

Homozygosity mapping was performed in five affected families of Jewish Yemenite origin to determine the molecular cause of normophosphatemic familial tumoral calcinosis (NFTC), and NFTC was mapped to chromosome 7q21-7q21.3. Mutation analysis revealed a homozygous, deleterious mutation in the SAMD9 gene (K149SE), which was found to segregate with the disease in all the families and to interfere with the protein expression.

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SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4

Article Abstract:

A novel autosomal-recessive syndrome that consists of female to male sex reversal and renal, adrenal and lung dysgenesis and is associated with additional developmental defects is reported. It is demonstrated that WNT4 plays a crucial role during organogenesis in humans.

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