RESUMO
La microduplicación 3q29 (MIM 611936) es un raro síndrome caracterizado por retraso mental moderado, rasgos dismórficos craneofaciales y anomalías musculoesqueléticas. La región mínima crítica tiene un tamaño de aproximadamente 1,73Mb, está flanqueada por secuencias repetitivas y es similar en tamaño a la microdeleción recíproca 3q29, sugiriendo para ambas una recombinación homóloga no alélica (NAHR) entre las secuencias repetitivas como mecanismo de producción. Describimos una nueva familia con diferente expresividad clínica en la paciente y su madre (AU)
3q29 microduplication (MIM 611936) is rare syndrome characterized by moderate mental retardation, craniofacial dysmorphic features and musculoskeletal anomalies. The size of the minimal critical region is about 1.73Mb. It is flanked by repetitive sequences and it is similar in size to the reciprocal 3q29 microdeletion, suggesting a non-allelic homologous recombination event (NAHR) at flanking LCR sequences as its aetiological mechanism. We describe a new familial case with variable expressivity (AU)
Assuntos
Humanos , Feminino , Criança , Duplicação Cromossômica , Deficiência Intelectual/genética , Anormalidades Musculoesqueléticas/genética , Anormalidades Craniofaciais/genética , Sequências Repetitivas de Ácido Nucleico/genéticaRESUMO
3q29 microduplication (MIM 611936) is rare syndrome characterized by moderate mental retardation, craniofacial dysmorphic features and musculoskeletal anomalies. The size of the minimal critical region is about 1.73 Mb. It is flanked by repetitive sequences and it is similar in size to the reciprocal 3q29 microdeletion, suggesting a non-allelic homologous recombination event (NAHR) at flanking LCR sequences as its aetiological mechanism. We describe a new familial case with variable expressivity.
Assuntos
Anormalidades Craniofaciais/genética , Duplicação Gênica , Deficiência Intelectual/genética , Anormalidades Musculoesqueléticas/genética , Criança , Feminino , Humanos , Lactente , Fenótipo , SíndromeRESUMO
A large portion of the 13C resonance assignments for murine epidermal growth factor (mEGF) at pH 3.1 and 28 degrees C has been determined at natural isotope abundance. Sequence-specific 13C assignments are reported for 100% of the assignable C alpha, 96% of the C beta, 86% of the aromatic and 70% of the remaining peripheral aliphatic resonances of mEGF. A good correlation was observed between experimental and back-calculated C alpha chemical shifts for regions of regular beta-sheet structure. These assignments also provide the basis for interpreting 1H alpha-13C alpha heteronuclear NOE (HNOE) values in mEGF at natural isotope abundance. Some of the backbone polypeptide segments with high internal mobility, indicated by these 1H alpha-13C alpha HNOE measurements, correlate with locations of residues involved in the putative mEGF-receptor binding site. Using four families of mEGF structures obtained over the last few years, we demonstrate that standard deviations between experimental and back-calculated delta delta C alpha values can be used to monitor the refinement of this protein's structure, particularly for beta-sheet regions. Improved agreement between calculated and observed values of delta delta C alpha is correlated with other measures of structure quality, including lowered values of residual constraint violations and more negative values of conformational energy. These results support the view that experimental conformation-dependent chemical shifts, delta delta C alpha, can provide a reliable source of information for monitoring the process of protein structure refinement and are potentially useful restraints for driving the refinement.