DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily the immune and nervous systems. BCL11B germline variants have been associated with a variety of developmental syndromes. However, genotype-phenotype correlations along with pathophysiologic mechanisms of selected variants mostly remain elusive.

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

Heterogeneous nuclear ribonucleoprotein C (HNRNPC) is an essential, ubiquitously abundant protein involved in mRNA processing. Genetic variants in other members of the HNRNP family have been associated with neurodevelopmental disorders. Here, we describe 13 individuals with global developmental delay, intellectual disability, behavioral abnormalities, and subtle facial dysmorphology with heterozygous HNRNPC germline variants.

A Survey of Eating Attitudes and Behaviors in Adolescents and Adults With Phenylalanine Hydroxylase Deficiency.

Introduction: Phenylalanine hydroxylase deficiency, commonly known as phenylketonuria (PKU), is an inborn error of metabolism that manifests in severe neurological damage when left untreated. Routine newborn screening has made early identification and treatment of affected individuals possible, changing the prognosis of PKU from devastating to excellent. The most effective treatment for PKU involves lifelong dietary restriction of protein, nutrition supplementation via medical foods, and frequent monitoring of amino acid levels in the blood.