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An SCN9A channelopathy causes congenital inability to experience pain
The data suggest that SCN9A is an essential and non-redundant requirement for nociception in humans, and should stimulate the search for novel analgesics that selectively target this sodium channel subunit.
Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism
Using genetic linkage analysis, it is found that biallelic loss-of-function mutations in the centrosomal pericentrin (PCNT) gene on chromosome 21q22.3 cause microcephalic osteodysplastic primordial dwarfism type II (MOPD II) in 25 patients.
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome
Joubert syndrome–related disorders (JSRD) are a group of syndromes sharing the neuroradiological features of cerebellar vermis hypoplasia and a peculiar brainstem malformation known as the 'molar…
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
High-resolution mtDNA evidence for the late-glacial resettlement of Europe from an Iberian refugium.
A large fraction of the maternal ancestry of modern Europeans traces back to the expansion of hunter-gatherer populations at the end of the last Ice Age, as shown by the patterns of frequency and diversity of haplogroup H.
CONSANGUINEOUS MARRIAGES IN THE UNITED ARAB EMIRATES
- L. Al-Gazali, A. Bener, Y. Abdulrazzaq, R. Micallef, A. Al-Khayat, T. Gaber
- BiologyJournal of Biosocial Science
- 1 October 1997
The rate of consanguinity in the present generation was high (50·5%) with a coefficient of inbreeding of 0·0222 and the commonest type of Consanguineous marriage was between first cousins (26·2%).
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes
This work mapped this disorder to chromosome 2q23.1 and identified LRP2 mutations in six families with Donnai-Barrow syndrome and one family with facio-oculo-acoustico-renal syndrome, implicating a pathway with potential pharmacological therapeutic targets.
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.
It is concluded that, although NPR-B is expressed in a number of tissues, its major role is in the regulation of skeletal growth.
Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.
- Tracy J Dixon-Salazar, J. Silhavy, J. Gleeson
- BiologyAmerican journal of human genetics
- 1 December 2004
The data suggest that AHI1 is required for both cerebellar and cortical development in humans, and recently described mutations in NPHP1, encoding a protein containing an SH3 domain, in a subset of patients with JS plus nephronophthisis, suggest a shared pathway.
Genetic disorders in the Arab world
The magnitude of the problem, the currently available genetic services in Arab countries, and recommendations for developing strategies for prevention are presented, including those that could be strengthened by the efficient training of primary healthcare personnel.