ABSTRACT
BACKGROUND: Ellis-van Creveld syndrome (EvCS) is a chondroectodermal dysplasia caused by germline pathogenic variants in ciliary complex subunit 1 and 2 genes (EVC, EVC2) on chromosome 4p16.2. This disease has a broad phenotype, and there are few described phenotype-genotype correlations. METHODS: Ethical Compliance: Written informed consent was obtained from the parents. Here, we report a genetically confirmed Mexican patient with EvCS having two inherited pathogenic variants in trans in EVC2: c.[1195C>T];[2161delC]. RESULTS: This patient allowed a genotypic-phenotypic comparison with another Mexican subject who presented a more attenuated phenotype; furthermore, our patient also presented cleft palate, a rarely reported feature. CONCLUSION: Our case shows the importance of comparing functional hemizygosity between patient's phenotypes when they share a variant, and our case also supports the association of alterations in the palate as part of the EvCS phenotype.
Subject(s)
Cleft Palate , Ellis-Van Creveld Syndrome , Phenotype , Humans , Cleft Palate/genetics , Cleft Palate/pathology , Ellis-Van Creveld Syndrome/genetics , Ellis-Van Creveld Syndrome/pathology , Mexico , Male , Female , Intercellular Signaling Peptides and ProteinsABSTRACT
Microdeletions of the long arm of chromosome 13 lead to a characteristic facial appearance with systemic affection; 13q deletion shows a wide phenotypic spectrum that varies with respect to the location and size of the deletion region. The main clinical features are mental retardation, growth retardation, craniofacial dysmorphy and various congenital defects. In the present study we describe the case of an adult female of Mexican origin with microcephaly, facial dysmorphism, short stature, hand anomalies and normal intelligence associated with a de novo 13q31.3-q32.1 microdeletion that involved several genes including the MIR17HG and the GPC5 genes.
Subject(s)
Chromosome Deletion , Chromosome Disorders/diagnosis , Chromosome Disorders/genetics , Chromosomes, Human, Pair 13 , Abnormalities, Multiple , Adult , Chromosome Banding , Comparative Genomic Hybridization , Facies , Female , Humans , In Situ Hybridization, Fluorescence , Phenotype , Polymorphism, Single NucleotideABSTRACT
OBJECTIVE: To describe the case of a pregnant woman and her fetus with Noonan syndrome (NS) whom were diagnosed through ultrasonography 3D and molecular analysis of the PTPN11 gene. STUDY DESIGN: Case report. RESULTS: We detected in a pregnant woman and her child the G
Subject(s)
Mutation
, Noonan Syndrome/diagnosis
, Protein Tyrosine Phosphatase, Non-Receptor Type 11/genetics
, Ultrasonography, Prenatal
, Adult
, Base Sequence
, DNA Mutational Analysis
, Female
, Genetic Testing
, Heterozygote
, Humans
, Imaging, Three-Dimensional
, Mutation/physiology
, Noonan Syndrome/genetics
, Pregnancy
, Ultrasonography, Prenatal/methods
