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Author(s): James J. Cox [1, 14]; Frank Reimann [2, 14]; Adeline K. Nicholas [1]; Gemma Thornton [1]; Emma Roberts [3]; Kelly Springell [3]; Gulshan Karbani [4]; Hussain Jafri [5]; Jovaria [...]

The quantification of homozygosity in consanguineous individuals with autosomal recessive disease is presented. The data shows that prolonged parental inbreeding has led to a background level of homozygosity increased ~5% over and above that predicted by simple models of consanguinity.

Primary, or true, autosomal recessive microcephaly (MCPH1) is inherited as an autosomal recessive trait and maps to chromosome 8p22-pter. It has been found to be genetically heterogeneous by analyzing nine consanguineous families with primary microcephaly. Two consanguineous families of Pakistani origin were studied in the identification of the genetic locus, MCPH1, between D8S1824 and D8S1825 using autozygosity mapping.

Autosomal recessive primary microcephaly is a potential model in which to research genes involved in human brain growth. We show that two forms of the disorder result from homozygous mutations in the genes CDK5RAP2 and CENPJ. We found neuroepithelial expression of the genes during prenatal neurogenesis and protein localization to the spindle poles of mitotic cells, suggesting that a centrosomal mechanism controls neuron number in the developing mammalian brain. [ABSTRACT FROM AUTHOR]

Pain perception has evolved as a warning mechanism to alert organisms to tissue damage and dangerous environments. In humans, however, undesirable, excessive or chronic pain is a common and major societal burden for which available medical treatments are currently suboptimal. New therapeutic options have recently been derived from studies of individuals with congenital insensitivity to pain (CIP). Here we identified 10 different homozygous mutations in PRDM12 (encoding PRDI-BF1 and RIZ homology domain-containing protein 12) in subjects with CIP from 11 families. Prdm proteins are a family of epigenetic regulators that control neural specification and neurogenesis. We determined that Prdm12 is expressed in nociceptors and their progenitors and participates in the development of sensory neurons in Xenopus embryos. Moreover, CIP-associated mutants abrogate the histone-modifying potential associated with wild-type Prdm12. Prdm12 emerges as a key factor in the orchestration of sensory neurogenesis and may hold promise as a target for new pain therapeutics.

Background: Little is known about the influence of culture and beliefs about breast cancer, and its implications on preventive health behaviour among South Asian people in the UK., Methods: Using a qualitative approach, 24 South Asian breast cancer patients and their significant others were interviewed., Results: Most patients were unfamiliar with the subject of cancer; they expressed lack of knowledge of cancer as a disease and its symptoms. They identified a painless lump in the breast as sign of abnormality, but not cancer. They also did not know any non-lump breast symptoms. Over half participated in breast screening after encouragement from daughters or relatives. Most did not practise breast self-examination. Perceptions of cancer and health behaviour were influenced by cultural beliefs. Common themes were cancer is a taboo subject and cancer is a stigma. Patients also expressed misunderstandings about the cause of cancer. Cancer in the family had ramifications on children' s marriage prospects and may cause marital breakdown. Terminology used also caused communication problems with healthcare professionals and within the family: the use of ' chest' to substitute ' breast' changed the meaning of the message conveyed., Conclusions: Cultural beliefs and practices accentuate difficulties in understanding breast cancer, breast screening and breast self-examination, and can prevent South Asian women from adopting preventive health practices.