The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity

Focal Facial Dermal Dysplasias (FFDDs) are four developmental genetic disorders with similar bilateral “scar-like” facial lesions at birth and are classified by the lesion location: bitemporal for the FFDD subtypes 1-3 and peri-auricular for FFDD subtype 4. This review summarizes the clinical features of the subtypes and the genetic defects underlying FFDD3 and FFDD4, while […]

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Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa

Pathogenic variants (mutations) in the Abelson helper integration site 1 (AHI1) gene are known to be associated with Joubert syndrome, a developmental disorder causing visual, cognitive and motor deficits. In this study, we show that some pathogenic variants in the AHI1 gene can cause visual impairment, without other symptoms or signs suggestive of Joubert syndrome. […]

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Genetic causes of optic nerve hypoplasia

Optic nerve hypoplasia is characterized by the underdevelopment of the optic nerves, which carry the visual information from the retina to the brain. Optic nerve hypoplasia represents the most common congenital optic nerve anomaly and a leading cause of blindness in the United States. This review highlights the growing number of genes that have been […]

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The BRCA1 R1699Q intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

Mutations in BRCA1 confer high life-time risks for breast cancer (BC): 68% and ovarian cancer (OC): 39%. Our paper describes the cancer risks associated with the missense mutation BRCA1*R1699Q in a large group of families ascertained internationally. Results show that the risks associated with this mutation, BC 20%  and OC 6%, are lower than for the average BRCA1 mutations. Based on these […]

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Female-to-male sex reversal associated with unique Xp21.2 deletion disrupting genomic regulatory architecture of the dosage-sensitive sex reversal region

During the early stages of embryo growth, the SRY gene located on the Y chromosome triggers male sexual development. Typically, embryos with two X chromosomes develop into females. We report a child with two X chromosomes who had male appearing genitalia (female-to-male sex reversal) due to a deletion of a small X chromosome segment controlling […]

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Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa

Pathogenic variants (mutations) in the Abelson helper integration site 1 (AHI1) gene are known to be associated with Joubert syndrome, a developmental disorder causing visual, cognitive and motor deficits. In this study, we show that some pathogenic variants in the AHI1 gene can cause visual impairment, without other symptoms or signs suggestive of Joubert syndrome. […]

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Confirmation of mutations in PROSC as a novel cause of vitamin B6-dependent epilepsy

Early onset epilepsy with resistance to common anticonvulsants can be due to genetic defects that respond to high doses of vitamin B6. We describe four patients with neonatal, pyridoxine (vitamin B6) responsive seizures and disease causing variants in the PROSC gene, which regulates vitamin B6 metabolism in body cells. Three patients had favorable outcome with […]

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Somatic mosaicism containing double mutations in PTCH1 revealed by generation of induced pluripotent stem cells from nevoid basal cell carcinoma syndrome

As next generation sequencers are widely used, somatic mosaicism is thought to be more common than previously expected. We report a mosaic patient with nevoid basal cell carcinoma syndrome, a genetic condition featured by minor anomalies and high prevalence of cancers such as basal cell carcinoma and medulloblastoma. The patient had a germline PTCH1 mutation, […]

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