Golder Wilson - Academia.edu (original) (raw)

Papers by Golder Wilson

Journal of Medical Genetics, 1989

American journal of medical genetics, Sep 1, 1985

Three patients with duplication of 3q regions ranging from 3q25-+qter to the entire long arm prov... more Three patients with duplication of 3q regions ranging from 3q25-+qter to the entire long arm provide additional documentation of the dup(3q) malformation syndrome. Data on 40 cases now reported define a characteristic face with hirsutism, synophrys, broad nasal root, anteverted nares, downturned corners of the mouth, micrognathia, and malformed ears recognizable even in the 30-week fetus and distinct from that of the Brachmann-de Lange syndrome. Other characteristic anomalies include congenital heart anomalies involving primarily septa1 defects, hand malformations including simian creases, abnormal dermatoglyphics, clinodactyly or camptodactyly, omphalocele, skeletal anomalies, and genitourinary malformations. Severe mental and growth retardation are common in those patients (64%) who survive the first year. Chromosome study of relatives is extremely important for counseling because only 10 of 40 cases represented de novo duplications.

Pediatric Research, Apr 1, 1985

e ~t . of Pediatrics. Sections o f Newborn Services, Genetics, and ~e ' t a b o l i c Disease, An... more e ~t . of Pediatrics. Sections o f Newborn Services, Genetics, and ~e ' t a b o l i c Disease, Ann Arbor. Citrullinemia, a rare urea cycle enzymopathy (UCE) due t o the absence of argininosuccinate synthetase, is characterized by fulminant hyperammonemia and i t s associated complications. Recent studies have demonstrated alternative means of waste-nitrogen disposal utilizing both urea cycle intermediates and non-urea cycle pharmaceuticals i n patients with UCE. Poor neurologic outcome has also been shown t o occur w i t h prolonged neonatal hyperammonemia coma. Prevention o f hyperammonemia is therefore, a primary goal i n the initial treatment. We treated a 3.12 kg term male infant whose citrullinemia had been diagnosed by maternal amniocentesis because of a previously affected sibling who had died a t 9 days o f age. For this infant we instituted immediate neonatal therapy using 4 mM/kg/d of arginine hydrochloride as a continuous intravenous infusion, begun a t two hours of age. Postnatal amino acid concentrations remained between 24 and

International biology review, Aug 4, 2018

Multiple congenital anomalies have been a cardinal indicator for chromosome studies, whether obvi... more Multiple congenital anomalies have been a cardinal indicator for chromosome studies, whether obvious in devastating 13/18 trisomies or more subtle in patterns of major and minor anomalies exemplified by Down syndrome. 1 When DNA technology allowed detection of small aneuploid segments, first through targeted fluorescent in situ hybridization (FISH) and then by genomic array-comparative genomic hybridization-microarray analysis (aCGH), subtle chromosome changes were sometimes detected in apparently isolated congenital anomalies like costovertebral dysplasia. 2 As genomic screening became routine and affordable, dysmorphology diagnoses based on defect pattern were

Journal of Biology and Life Science, Sep 28, 2020

A female patient with substantial history and physical findings of Ehlers-Danlos syndrome by syst... more A female patient with substantial history and physical findings of Ehlers-Danlos syndrome by systematic evaluation had a variant in the gene encoding the sixth subunit of mitochondrial ATP synthetase gene that produced a change from glycine to aspartic acid at position 132 of the MT-ATP6 protein (MT-ATP6 m.8921G>A, p.Gly132Asp). The mutation was heteroplasmic, affecting 32% of the mitochondria in blood leucocytes, was qualified as a pathogenic variant because of its significant molecular change, but was not detected in the maternal blood sample as might be expected for its low degree of heteroplasmy. The patient was shown to have typical findings of Ehlers-Danlos syndrome by comparison of 48 history and physical findings in her and a peer group of 32 teenage females with that diagnosis. None of the classical neurosensory or developmental symptoms of mitochondrial disease were present in mother or daughter, but the patient had symptoms, metabolite alterations during rest or exercise, and muscle biopsy changes that suggested mild mitochondrial dysfunction. She also had heterozygous variants of uncertain significance in the nuclear PLOD1, FLNA, and ATP2A genes by concomitant whole exome sequencing that could also contribute to her arthritis-adrenaline disorder. Mitochondrial dysfunction is proposed to influence neuromuscular components of connective tissue, acting through an articulo-autonomic dysplasia cycle to cause the typical joint-skin laxity and dysautonomia of Ehlers-Danlos syndrome.

Journal of Medical Genetics, Mar 1, 1988

Three families including five subjects with the G or Opitz-Frias syndrome are added to 23 publish... more Three families including five subjects with the G or Opitz-Frias syndrome are added to 23 published cases who had dysphagia; characteristics of the two affected relatives were added to 19 well documented published reports. The data from index cases support the concept of the G syndrome as a constellation of midline defects, which include hypertelorism or telecanthus (89%), oesophageal dysmotility (69%), laryngotracheal clefts (44%), cleft palate or bifid uvula (34%), heart defects (29%), hypospadias (100% of males), renal or ureteral anomalies (42%), and mental retardation (38%). Affected relatives, often identified by hypertelorism, dysphagia, or hypospadias, had a much lower incidence of associated defects and mental retardation. They provide a more rounded but still biased view of a syndrome compatible with normal intelligence and life span. The data do not support a highly characteristic face in the G syndrome, which discriminates it from the phenotypically similar BBB syndrome. The variable expressivity and five cases of male to male transmission observed in 18 families are consistent with autosomal dominant inheritance. Vigilance for the morphological characteristics of G syndrome in patients with dysphagia is underscored by the potential for normal development with appropriate intervention. This six year old white female (fig lb) weighed 2640 g at birth; the 34 week gestation was complicated by polyhydramnios and premature rupture of mem- 157 copyright.

Pediatric Research, Apr 1, 1984

American Journal of Medical Genetics, 1983

Four patients are presented with the Goldenhar syndrome (GS) and cranial defects consisting of pl... more Four patients are presented with the Goldenhar syndrome (GS) and cranial defects consisting of plagiocephaly, microcephaly, skull defects, or intracranial dermoid cysts. Twelve cases from the literature add hydrocephalus, encephalocele, and arhinencephaly to a growing list of brain anomalies in GS. As a group, these patients emphasize the variability of GS and the increased risk for developmental retardation with multiple, severe, or unusual manifestations. The temporal relation of proposed teratogenic events in GS provides an opportunity to reconstruct biological relationships within the 3-5-week human embryo.

Journal of Medical Genetics, 1982

Case reports the proximal or the distal portion of the short arm of chromosome 4 have been descri... more Case reports the proximal or the distal portion of the short arm of chromosome 4 have been described but they have distinctly different and much more severe malformations than our patient.'9 20 In all of the cases reported with intersitital or terminal deletions of the long arm of chromosome 4, the breakpoints have been distal to that observed in our patient and the phenotypic expressions have been, for the most part, much more severe.2' 22 We suggest that a pericentric inversion, which in heterozygous form has no adverse phenotypic expression, may have such an effect in homozygous form. The developmental and language delays seen in our patient may have resulted from damage of critical genetic material at the breakpoints or from a position effect caused by gene rearrangement resulting from the inversion which is expressed only in the homozygous form. However, the possibility that other recessive alleles may be involved cannot be ruled out.

Journal of Medical Genetics, 1984

Family Medicine and Care, 2018

Journal of Biological Chemistry, 1974

Abstract Two phospho-β-glucosidases (β-d-glucoside 6-phosphate phosphoglucohydrolases; EC 3.2.1) ... more Abstract Two phospho-β-glucosidases (β-d-glucoside 6-phosphate phosphoglucohydrolases; EC 3.2.1) have been purified to apparent homogeneity from extracts of Escherichia coli K12. Both enzymes require 6-phosphoryl-β-glucosides as substrates and cleave the glycosidic linkage, yielding glucose 6-phosphate and the aglycone. In intact cells and in extracts these enzymes cleave β-glucoside phosphates generated from β-glucosides and phosphoenolpyruvic acid by enzyme I, heat-stable protein (HPr), and a specific P-HPr:β-glucoside phosphotransferase (enzyme II) of the phosphotransferase system initially described by Kundig et al. ((1964) Proc. Nat. Acad. Sci. U. S. A. 52, 1067–1074). Although they have similar molecular weights and appear to be dimers of identical subunits in each case, the two phospho-β-glucosidases (A and B) differ markedly in the purification procedure, amino acid composition, various kinetic parameters, and heat stability. Both enzymes hydrolyze aryl β-glucoside 6-phosphates much more rapidly than methyl β-glucoside 6-phosphate, phenyl 1-thio-β-glucoside 6-phosphate, or nitrophenyl β-galactoside 6-phosphate. Neither phospho-β-glucosidase hydrolyzed nor was inhibited to any extent by α-glucoside 6-phosphates, non-phosphorylated β-glucosides, or by a mixture of secondary hydroxyl phosphoryl-nitrophenyl-β-glucosides. Certain nucleotides and glycolytic intermediates inhibited one or both of the enzymes, and the kinetic behavior of the inhibition was competitive in nature for all of the compounds studied. For both phospho-β-glucosidases, the glycose product of reaction with nitrophenyl β-glucoside 6-phosphate was shown to be β-glucose 6-phosphate in the presence of water alone, but predominantly methyl β-glucoside 6-phosphate in 25 % methanol-water. Phosphorylation by the β-glucoside-specific enzyme II is rate-determining for aryl β-glucoside hydrolysis by intact cells.

Proceedings of the National Academy of Sciences, 1970

Bromostearic acid satisfies the essential fatty acid requirement of an unsaturated fatty acid aux... more Bromostearic acid satisfies the essential fatty acid requirement of an unsaturated fatty acid auxotroph of Escherichia coli K12. Over 55% of the fatty acids derived from lipids isolated from membranes of cells grown in bromostearate-supplemented medium contained bromine, as established by gas chromatography and mass spectrometry of the methyl esters. During equilibrium centrifugation in sucrose gradients, the cytoplasmic membranes isolated from bromostearate-grown cells banded at a density approximately 0.06 g/cm 3 greater than membranes isolated from oleate- or elaidate-grown cells, affording a complete separation between membranes which contain brominated fatty acids and those which do not.

Pediatric Research, 1985

p~o f e d i a t r i c s. Lexington. ~~o n d~i o l i ; t h e s i s (SOL) which i s. a forward disp... more p~o f e d i a t r i c s. Lexington. ~~o n d~i o l i ; t h e s i s (SOL) which i s. a forward displacement of the vertebra and spondylolysis (SLY) which i s a deterioration o r fracture in the pars i n t e r a r t i c u l a r i s of the vertebral arch often occur together with SLY usually giving r i s e t o SOL. These defects often involve the 5th lumbar vertebra and have an increased association with spina bifida occulta of 5th lumbar vertebra and the 1st sacral vertebra. Symptoms usually begin in l a t e adolescence o r young adulthood and include back spasm, back pain, s c i a t i c pain, and spinal curvature. Autosomal dominant inheritance (Clin Genet 13:471,78) has been noted i n some families. Acromial skin dimples (ASD) are rare in normal individuals, but can be found i n conditions where there i s a deficiency of subcutaneous f a t , muscle, and/or bone. Two families (h e r

Pediatric Health, Medicine and Therapeutics, 2011

An 11-year-old female with early feeding problems, mild motor delays, normal speech, subtle facia... more An 11-year-old female with early feeding problems, mild motor delays, normal speech, subtle facial changes, social difficulties, anxiety and a diagnosis of Asperger disorder was found to have deletion of 10q26.3 by subtelomere fluorescent in situ hybridization (stF) analysis. Our patient and others with 10q26 aneuploidy add this region to 11 other autism susceptibility loci qualified by converging genome linkage/association, high resolution chromosome, and mutation studies in our review. We summarize these loci and the current spectrum of terminal 10q deletion cases.

Pediatric and Developmental Pathology, 2003

We describe a female infant with morphologic features of Rutledge multiple-congenital-anomaly syn... more We describe a female infant with morphologic features of Rutledge multiple-congenital-anomaly syndrome (RM-CAS) and biochemical features of Smith-Lemli-Opitz syndrome (SLOS). She had microcephaly with hypoplastic cerebral frontal lobes and cerebellum, agenesis of the splenium of corpus callosum, abnormal facies including hypertelorism with bilateral inner epicanthal folds, a broad nasal bridge with slightly anteverted nares and patent choanae, low set ears and complex conchal formation, high-arched palate and thick maxillary alveolar ridges, and micrognathia. Her chest was broad, genitalia were ambiguous, and uterus was bicornuate. Skeletal abnormalities included a hypoplastic appendicular skeleton, post-axial hexadactyly of the right hand and the left foot, syndactyly of bilateral 2nd–3rd toes and left 5th–6th toes, right talipes varus and left talipes valgus, and fused L5–S1 vertebrae. Congenital heart disease consisted of hypoplastic left heart, coronary sinus agenesis, ostium se...

Journal of Molecular Biology, 1971

... transport system, the effect of temperature on trans port was characteristic of cells grown e... more ... transport system, the effect of temperature on trans port was characteristic of cells grown entirely in medium supplemented with lino leic acid. ... consisting of medium A (Davia Mingioli, 1950), 1 Difco Casamino acids and 05 of the detergent Triton X100 (Rohm Haas) to solubilize ...

Experimental and Molecular Pathology, 2006

A newborn female presented with costovertebral dysplasia (CVD), subtle facial anomalies, and neon... more A newborn female presented with costovertebral dysplasia (CVD), subtle facial anomalies, and neonatal respiratory distress. Her karyotype demonstrated a small supernumerary NOR-positive marker that was subsequently identified as del(22)(q11.2). This extra structurally abnormal chromosome was found by DNA microsatellite marker analyses to be derived from a paternal chromosome 22. The child has had severe growth and developmental delay along with pulmonary insufficiency and hypoxia but is presently stable at age 20 months. Findings in our patient correlate with similar observations in children with small markers derived from D/G and D/D translocations reported before banding technology was available. These reports and recent mapping results suggest that a pericentric gene family, distributed on one or more acrocentric chromosomes, may have played a role in the development of the human axial skeleton. Data from additional studies will be needed to confirm or refute this hypothesis.

Clinical Genetics, 2008

A 13‐year‐old male presented with new onset seizures, sagittal sinus thrombosis with cerebral hem... more A 13‐year‐old male presented with new onset seizures, sagittal sinus thrombosis with cerebral hemorrhage, and extensive venous thrombosis of the lower limbs. Laboratory investigation demonstrated combined deficiency of protein C, protein S, and antithrombin III. He and his 17‐year‐old sister had a mental retardation‐multiple anomaly syndrome associated with microcephaly, unusual facies, and lax connective tissue. Their dysmorphology included elongated faces with narrow forehead, arched eyebrows, large mouth with down‐turned corners, malformed teeth, and furrowed tongue. Both had Marfanoid habitus with lax joints, pectus excavatum, kyphoscoliosis, and flat narrow feet. The most likely diagnosis for these siblings is the autosomal recessive Cohen syndrome of mental retardation, congenital hypotonia with Marfanoid habitus, microcephaly, pleasant affect, micrognathia, and open mouth with prominent incisors. The sagittal sinus thrombosis, left frontal intracranial hemorrhage, carotid ane...