acid-phosphatase and Abnormalities--Multiple

We aim to characterize patients with Gomez-López-Hernández syndrome (GLHS) clinically and to investigate them molecularly. A clinical protocol, including a morphological and neuropsychological assessment, was applied to 13 patients with GLHS. Single-nucleotide polymorphism (SNP) array and whole-exome sequencing were undertaken; magnetic resonance imaging was performed in 12 patients, including high-resolution, heavily T2-weighted sequences (HRT2) in 6 patients to analyze the trigeminal nerves. All patients presented alopecia; two did not present rhombencephalosynapsis (RES); trigeminal anesthesia was present in 5 of the 11 patients (45.4%); brachycephaly/brachyturricephaly and mid-face retrusion were found in 84.6 and 92.3% of the patients, respectively. One patient had intellectual disability. HRT2 sequences showed trigeminal nerve hypoplasia in four of the six patients; all four had clinical signs of trigeminal anesthesia. No common candidate gene was found to explain GLHS phenotype. RES does not seem to be an obligatory finding in respect of GLHS diagnosis. We propose that a diagnosis of GLHS should be considered in patients with at least two of the following criteria: focal non-scarring alopecia, rhombencephalosynapsis, craniofacial anomalies (brachyturrycephaly, brachycephaly or mid-face retrusion), trigeminal anesthesia or anatomic abnormalities of the trigeminal nerve. Studies focusing on germline whole genome sequencing or DNA and/or RNA sequencing of the alopecia tissue may be the next step for the better understanding of GLHS etiology.

Topics: Abnormalities, Multiple; Acid Phosphatase; Adolescent; Adult; Alopecia; Brazil; Cerebellum; Child; Child, Preschool; Craniofacial Abnormalities; Exome Sequencing; Female; Growth Disorders; Humans; Infant; Infant, Newborn; Magnetic Resonance Imaging; Male; Neurocutaneous Syndromes; Phenotype; Polymorphism, Single Nucleotide; Rhombencephalon; Trigeminal Nerve; Young Adult

Only a few genetic causes for childhood obesity have been identified to date. Copy number variants (CNVs) are known to contribute to obesity, both syndromic (15q11.2 deletions, Prader-Willi syndrome) and nonsyndromic (16p11.2 deletions) obesity.. To study the contribution of CNVs to early-onset obesity and evaluate the expression of candidate genes in subcutaneous adipose tissue.. A case-control study in a tertiary academic center.. CNV analysis was performed on 90 subjects with early-onset obesity and 67 normal-weight controls. Subcutaneous adipose tissue from body mass index-discordant siblings was used for the gene expression analyses.. We used custom high-density array comparative genomic hybridization with exon resolution in 1989 genes, including all known obesity loci. The expression of candidate genes was assessed using microarray analysis of messenger RNA from subcutaneous adipose tissue.. We identified rare CNVs in 17 subjects (19%) with obesity and 2 controls (3%). In three cases (3%), the identified variant involved a known syndromic lesion (22q11.21 duplication, 1q21.1 deletion, and 16p11.2 deletion, respectively), although the others were not known. Seven CNVs in 10 families were inherited and segregated with obesity. Expression analysis of 37 candidate genes showed discordant expression for 10 genes (PCM1, EFEMP1, MAMLD1, ACP6, BAZ2B, SORBS1, KLF15, MACROD2, ATR, and MBD5).. Rare CNVs contribute possibly pathogenic alleles to a substantial fraction of children with early-onset obesity. The involved genes might provide insights into pathogenic mechanisms and involved cellular pathways. These findings highlight the importance of CNV screening in children with early-onset obesity.

Topics: Abnormalities, Multiple; Acid Phosphatase; Adolescent; Adult; Ataxia Telangiectasia Mutated Proteins; Autistic Disorder; Autoantigens; Case-Control Studies; Cell Cycle Proteins; Child; Child, Preschool; Chromosome Deletion; Chromosome Disorders; Chromosome Duplication; Chromosomes, Human, Pair 1; Chromosomes, Human, Pair 16; Chromosomes, Human, Pair 22; Comparative Genomic Hybridization; DiGeorge Syndrome; DNA Copy Number Variations; DNA Repair Enzymes; DNA-Binding Proteins; Extracellular Matrix Proteins; Female; Humans; Hydrolases; Intellectual Disability; Kruppel-Like Transcription Factors; Male; Megalencephaly; Microfilament Proteins; Nuclear Proteins; Pediatric Obesity; Proteins; RNA, Messenger; Siblings; Subcutaneous Fat; Transcription Factors; Transcription Factors, General; Transcriptome; Young Adult

We report a patient with a de novo interstitial deletion of the short arm of chromosome 2 (p23p25). The patient had microcephaly with prominent forehead and occiput, narrow rectangular face, clinodactyly, failure to thrive, delayed psychomotor development, and seizures. Maternal serum alpha-fetoprotein was undetectable at 18 weeks of gestation. Heterozygosity at the red cell acid phosphatase locus (SRO-2p25) and normal levels of red cell malate dehydrogenase (SRO-2p23) are findings consistent with the presence of genetic material from bands 2p25 and 2p23.

Topics: Abnormalities, Multiple; Acid Phosphatase; Chromosome Aberrations; Chromosome Deletion; Chromosome Disorders; Chromosomes, Human, Pair 2; Erythrocytes; Genetic Markers; Humans; Infant, Newborn; Intellectual Disability; Malate Dehydrogenase; Male; Microcephaly

The locus for acid phosphatase (ACP1) had been alternately assigned to two conflicting regions on the short arm of chromosome 2. We present a clinical and cytogenetic report of one patient who has an interstitial deletion of 2, del(2) (p23p25.1), and a cytogenetic study of another cell line with an interstitial deletion of 2p (p23.1p25.1). Because both patients are heterozygotes for ACP1, the assignment of ACP1 to 2p25.1----pter is supported.

Topics: Abnormalities, Multiple; Acid Phosphatase; Child; Chromosome Aberrations; Chromosome Deletion; Chromosome Disorders; Chromosome Mapping; Chromosomes, Human, Pair 2; Genetic Markers; Humans; Infant, Newborn; Intellectual Disability; Microcephaly; Seizures

The human red cell acid phosphatase (ACP1) locus was assigned to region 2p23 leads to 2pter by Ferguson-Smith et al [3], more specifically to 2p23 by Hamerton et al [5]. We describe two unrelated patients with deletion of chromosome 2, with similar breakpoints in the distal portion of band p23 (del(2) (p23)). ACP1 typing in both patients revealed heterozygous BA phenotypes. Thus, we assign the locus for ACP1 to the distal portion of 2p23.

Topics: Abnormalities, Multiple; Acid Phosphatase; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, 1-3; Female; Genetic Markers; Humans; Infant, Newborn; Male; Phenotype

During a ten-year period 17 patients with total congenital absence of the vagina were treated by a split-skin inlay grafting technique. The average age at the time of operation was 21 years. Associated malformations, mostly afflicting the urinary tract, were found in 9 patients. The skin graft was applied on a perforated hollow acrylic mould, 12 cm long and 4 cm in diameter. The acrylic mould was removed on the tenth day and a soft silicon mould was then utilized for at least 6 months. The mean hospitalization time was 28 days. The grafts took completely in 11/17 patients and in the remaining cases the take averaged 80%. There was no major complication, such as fistulas, in the series. With the exception of two patients with male hermaphroditism all patients were contented with the operation and stated that they had a satisfactory sex-life. In 9/17 patients, a closer follow-up including a biopsy was made. The average depth of the vaginas was 8 cm (range, 6 to 10 cm), and the average diameter 3 cm (range 2.5 to 4 cm). The histological studies consistently showed that the original skin morphology was maintained in the recipient site.

Topics: Abnormalities, Multiple; Acid Phosphatase; Adolescent; Adult; Epidermis; Epithelium; Female; Follow-Up Studies; Humans; Leucyl Aminopeptidase; Lipids; Mucous Membrane; NADPH Dehydrogenase; Polysaccharides; Skin Transplantation; Surgery, Plastic; Vagina

Topics: Abnormalities, Multiple; Acid Phosphatase; Alleles; Chromosome Mapping; Chromosomes, Human, 1-3; Erythrocytes; Female; Humans; Infant; Male

Topics: Abnormalities, Multiple; Acid Phosphatase; Arabinose; Corneal Opacity; Cytoplasmic Granules; Fibroblasts; Galactosidases; Glucosidases; Glucuronidase; Glycosaminoglycans; Glycoside Hydrolases; Hexosaminidases; Humans; Intellectual Disability; Mannose; Metabolism, Inborn Errors; Mucopolysaccharidoses; Phosphoric Diester Hydrolases; Retinitis Pigmentosa; Skin

Topics: Abnormalities, Multiple; Acid Phosphatase; Bone and Bones; Carbohydrate Metabolism, Inborn Errors; Carbohydrates; Child; Child, Preschool; Chromatography, Gel; Corneal Opacity; Face; Galactosidases; Glucuronidase; Hexosaminidases; Humans; Inclusion Bodies; Intellectual Disability; Leukocyte Count; Liver; Lymphocytes; Male; Mannose; Microscopy, Electron

Topics: Abnormalities, Multiple; Acid Phosphatase; Amniotic Fluid; Female; Fetus; Galactosidases; Glucosidases; Glucuronidase; Hexosaminidases; Humans; Lysosomes; Metabolism, Inborn Errors; Pregnancy; Prenatal Diagnosis; Sulfatases