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Cc2D2A Is Mutated In Joubert Syndrome And Interacts With The Ciliopathy-Associated Basal Body Protein Cep290
(Cell Press, 2008)
Joubert syndrome and related disorders (JSRD) are primarily autosomal-recessive conditions characterized by hypotonia, ataxia, abnormal eye movements, and intellectual disability with a distinctive mid-hindbrain malformation. ...
Calpainopathy - A Survey of Mutations and Polymorphisms
(Cell Press, 1999)
Limb-girdle muscular dystrophy-type 2A (LGMD2A) is an autosomal recessive disorder characterized mainly by symmetrical and selective atrophy of the proximal limb muscles. It derives, from defects in the, human CAPN3 gene, ...
Combined Pituitary Hormone Deficiency Due To Gross Deletions In The Pou1F1 (Pit-1) And Prop1 Genes
(Nature Publishing Group, 2017)
Pituitary development depends on a complex cascade of interacting transcription factors and signaling molecules. Lesions in this cascade lead to isolated or combined pituitary hormone deficiency (CPHD). The aim of this ...
Genes For Spinocerebellar Ataxia With Blindness And Deafness (Scabd/Scar3, Mim# 271250 And Scabd2)
(Nature Publishing Group, 2016)
Ataxia is a symptom that is often associated with syndromic inherited diseases. We previously reported the linkage of a novel syndrome, ataxia with blindness and deafness (SCAR3/SCABD, OMIM# 271250), to chromosome 6p21-p23 ...
Human Osteoclast-Poor Osteopetrosis With Hypogammaglobulinemia Due To Tnfrsf11A (Rank) Mutations
(Cell Press, 2008)
Autosomal-Recessive Osteopetrosis (ARO) comprises a heterogeneous group of bone diseases for which mutations in five genes are known as causative. Most ARO are classified as osteoclast-rich, but recently a subset of ...
Homozygous Inactivating Mutations In The Nkx3-2 Gene Result In Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
(Cell Press, 2009)
Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD) is a rare skeletal dysplasia with only a few cases reported in the literature. Affected individuals have a disproportionate short stature with a short and stiff neck and ...
Kif7 Mutations Cause Fetal Hydrolethalus and Acrocallosal Syndromes
(Nature Publishing Group, 2011)
KIF7, the human ortholog of Drosophila Costal2, is a key component of the Hedgehog signaling pathway. Here we report mutations in KIF7 in individuals with hydrolethalus and acrocallosal syndromes, two multiple malformation ...
Two New Loci For Autosomal Recessive Ichthyosis On Chromosomes 3P21 And 19P12-Q12 And Evidence For Further Genetic Heterogeneity
(Univ Chicago Press, 2000)
Autosomal recessive ichthyosis (ARI) includes a heterogeneous group of disorders of keratinization characterized by desquamation over the whole body. Two forms largely limited to the skin have been defined: lamellar ...
Homozygosity Mapping And Targeted Genomic Sequencing Reveal The Gene Responsible For Cerebellar Hypoplasia And Quadrupedal Locomotion In A Consanguineous Kindred
(Cold Spring Harbor Lab Press, Publications Dept, 2011)
The biological basis for the development of the cerebro-cerebellar structures required for posture and gait in humans is poorly understood. We investigated a large consanguineous family from Turkey exhibiting an extremely ...
Risk Assessment and Communication Tools For Genotype Associations With Multifactorial Phenotypes: The Concept of "Edge Effect" And Cultivating an Ethical Bridge Between Omics Innovations and Society
(Mary Ann Liebert, Inc, 2009)
Applications of omics technologies in the postgenomics era swiftly expanded from rare monogenic disorders to multifactorial common complex diseases, pharmacogenomics, and personalized medicine. Already, there are signposts ...
