Publications by authors named "Joel J Hughes"
Establishing the diagnosis of hereditary fructose intolerance (HFI) remains difficult despite the availability of specific molecular genetic testing of the gene. This is attributable, at least in part, to the lack of a specific and practical biomarker. We report the incidental diagnosis of HFI as a consequence of nontargeted genetic testing ordered for alternative indications in 5 patients, including 3 children and 2 adults.
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- Researchers identified twelve individuals with new loss-of-function variants in the PPP1R12A gene, crucial for cell development, through two ongoing sequencing projects focused on holoprosencephaly and sex development disorders.
- The presence of these variants is linked to significant congenital anomalies, with five individuals showing brain malformations, nine with urogenital issues, and some with additional conditions like omphalocele and syndactyly.
- The findings suggest a strong association between PPP1R12A variants and a syndrome affecting brain and genitourinary development, highlighting its importance in embryogenesis.